Distal Muscular Dystrophy: Symptoms, Types, and Diagnosis - Verywell Health FINmaj is a complex 11-bp insertiondeletion resulting in substitution of four amino acids without any frameshift and preserving the downstream amino acid sequence. It is a form of muscular dystrophy that specifically involves muscles in the throat, lower legs, and forearms. A dominant form of gnathodiaphyseal dysplasia is (GDD) an allelic disorder caused by ANO5 missense variants in heterozygosity 222,223. Tibial muscular dystrophy (TMD) or Udd myopathy was described in 1993 in Finnish patients 16. Hypertrophic and dilated cardiomyopathies (with or without left ventricular noncompaction) are allelic disorders 99,100. Source: Washington University Neuromuscular Home Page, May 2006, Muscular Dystrophy Association National Office, 800-572-1717 | ResourceCenter@mdausa.org. Plaques made up mostly of cholesterol build up on your artery walls and restrict blood flow. CAPN3-mediated processing of C-terminal titin replaced by pathological cleavage in titinopathy. CRYAB encodes alpha-B-crystallin, also called HSPB5, a member of the small heat-shock protein family, a molecular chaperone that interacts with desmin in the assembly of intermediate filaments 119-122. Phenotypic variability in a Spanish family with a caveolin-3 mutation. Muscular Dystrophy vs. Muscle Atrophy: Symptoms and More - Verywell Health Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31, Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Carbonell-Corvillo P, Tristan-Clavijo E, Cabrera-Serrano M, et al. Core-rod myopathy caused by mutations in the nebulin gene. Fulizio L, Nascimbeni AC, Fanin M, et al. Causative CRYAB variants also cause a dominant dilated cardiomyopathy, congenital cataract (dominant and recessive) and a more severe, usually recessive myopathy (fatal infantile hypertonic myofibrillar myopathy) 123-127. DD has several forms. In 2010 and in 2012, two studies identified patients with CRYAB mutations and a distal adult-onset myofibrillar myopathy 115,116. MYH7 gene: MedlinePlus Genetics An extended targeted copy number variation detection array including 187 genes for the diagnostics of neuromuscular disorders. A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles, Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy, Structure and function of filamin C in the muscle Z-disc. Myopathy is a general term used to describe a number of conditions affecting the muscles. . Distal Myopathy with Rimmed Vacuoles (DMRV) | Causes - Epainassist Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion, Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy, A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy, GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing. The most consistent histopathology is hypotrophy of type 1 slow fibers, often combined with core/minicore lesions 238. Linkage analysis suggested that the causative gene could have been localized in the 19p13.3 locus 62. Clinical spectrum of valosin containing protein (VCP)-opathy. HMERF titinopathy (i.e. Myopathy Causes, Symptoms, and Treatment - Verywell Health Distal myopathy with rimmed vacuoles (DMRV) . centronuclear myopathy myotubular myopathy . Lehtokari VL, Pelin K, Herczegfalvi A, et al. HSPB8 missense variants had been previously associated with distal hereditary motor neuropathy 2A (dHMN2A) and Charcot-Marie-Tooth disease (CMT2L) 197-201. Ribeiro Ede A, Jr., Pinotsis N, Ghisleni A, et al. Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations. Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy. Intellect isn't affected in this disease. Sarparanta J, Blandin G, Charton K, et al. Moreover, dilated cardiomyopathy and hypertrophic cardiomyopathy have been associated with missense variants in ACTN2 The more common phenotype of bi-allelic variants in ANO5 is late onset proximal (LGMDR12) 206,207,211-214. The Role of the Heat Shock Protein B8 (HSPB8) in Motoneuron Diseases. Scalco RS, Gardiner AR, Pitceathly RD, et al. WDM was first described in several Swedish families in 1951 as an autosomal dominant late adult-onset (usually over 50 years) disease with a prominent early involvement of fingers and wrist extensors 9. Miyoshi and colleagues first described patients in the sixties with early adult-onset weakness, myalgia and atrophy in calf muscles 128. Scattered and grouped atrophic fibers (that can be misinterpreted as neurogenic changes) are detectable in the biopsy of affected muscle without rods on light microscopy 258,259. The clinical onset is usually in childhood or early adulthood 290. Reflecting the size and complexity of titin, causative variants result in allelic diseases affecting skeletal muscle, heart or both of them, referred to as titinopathies 25,26. The plaques that develop in atherosclerosis can rupture, causing a blood clot. Late-onset distal myopathy of the upper limbs due to P.Ile151Val mutation in the valosin-containing protein. Kubisch C, Schoser BG, von During M, et al. Pogoryelova O, Urtizberea JA, Argov Z, et al. Many times muscular dystrophy appears to have occurred out of the blue, but in reality, one or both parents may be carriers, silently harboring the genetic mutation. Boland-Freitas R, Graham J, Davis M, et al. Jungbluth H, Dowling JJ, Ferreiro A, Muntoni F, Consortium RYRM. Valosin-containing protein-related myopathy and Meige syndrome: Just a coincidence or not? Gonzalez-Morales N, Holenka TK, Schock F. Filamin actin-binding and titin-binding fulfill distinct functions in Z-disc cohesion. Stojkovic T, Hammouda EH, Richard P, et al. In some families, multiple second causative variants segregating with the disease would mimic the presence of a dominant inheritance, making the diagnosis even more complex 141,142,146. The peculiar combination of severe adult onset distal atrophies in limb muscles and facial weakness, ptosis and dysphagia can occur both in dominant and recessive families and in sporadic patients 56,57. Muscle biopsy shows myopathic changes with acid phosphatase, ubiquitin, p62 and LC3 positive in the affected muscles, but in preserved muscles there is only a slight increase of internal nuclei. A novel frameshift ACTN2 variant causes a rare adultonset distal Some patients with CAV3 related myopathy have been previously described as LGMD1C patients 288. The first family was described in 1943 long before the gene was known 101,102. Mroczek M, Durmus H, Bijarnia-Mahay S, et al. Since then, additional patients and further causative variants have been reported 277,278. Clinical Onset age: Child or Adult Weakness: Similar to MPD1 (Gowers-Laing myopathy) Distal; Hanging big toe sign Myofibrillar protein accumulations are similar with myotilinopathy and desminopathy 96. and transmitted securely. Axial myopathy: an overlooked feature of muscle diseases A 125-kilodalton protein of the nuclear matrix contains an extensive acidic domain, Nuclear matrins: identification of the major nuclear matrix proteins. Myositis is the term used to describe a group of conditions that cause chronic muscle inflammation, damage, weakness, and (sometimes) pain. Mutation Spectrum of GNE Myopathy in the Indian Sub-Continent. Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features a case report, Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1), MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients. Distal myopathy is a group of rare genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or feet. 202,203. Distal Myopathy - Symptoms, Causes, Treatment | NORD Skeletal muscle biopsy shows myopathic changes and prominent rimmed vacuoles. Expanding the boundaries of RNA sequencing as a diagnostic tool for rare mendelian disease. Miyoshi myopathy (MM; early adult-onset, type 2) is a subtype of dysferlinopathy. RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases, Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: a European survey study, Future of Rare Diseases Research 2017-2027: an IRDiRC perspective. Myopathies: Practice Essentials, Background, Pathophysiology - Medscape Muscle imaging shows marked involvement of posterior lower legs. Ishiura H, Shibata S, Yoshimura J, et al. This protein is found in heart (cardiac) muscle and in type I skeletal muscle fibers. We still lack a clear genotype-phenotype correlation explaining the high intrafamilial and interfamilial clinical variability observed, also considering that female patients often have a milder disease than males 206,212,217-221. The muscles shrink (atrophy). Romero NB, Lehtokari VL, Quijano-Roy S, et al. Myopahthy can occur when the muscles do not develop properly, become damaged, or lack certain structural components needed to function normally. If a disease is dominant, then only one copy of the genetic defect is needed to cause the disease. A heterozygous mutation in the filamin C gene causes an unusual nemaline myopathy with ring fibers. Palmio J, Leonard-Louis S, Sacconi S, et al. Summary: Distal myopathy is a rare genetic disorder that weakens and wastes (atrophy) voluntary distal and proximal muscles. Copy number variation analysis increases the diagnostic yield in muscle diseases. Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset, Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Mutations in other parts of the gene may cause late onset myofibrillar myopathy with generalized weakness and cardiomyopathy 176-178. Loseth S, Voermans NC, Torbergsen T, et al. Titin interacts with several important proteins, including calpain-3 that binds the C-terminal portion of titin 21,22. Reinstein E, Gutierrez-Fernandez A, Tzur S, et al. Servidei S, Capon F, Spinazzola A, et al. Axonal neuropathies due to mutations in small heat shock proteins: clinical, genetic, and functional insights into novel mutations, Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy, Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L, New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy. A long range of other myopathies needs to be considered in the differential diagnostics since they may show prominent distal weakness and/or atrophy: Despite the huge developments in the last 20 years to uncover the genetic cause of distal myopathy, some families and patients still remain without a final diagnosis. Furthermore, MM is the most common form of autosomal recessive distal myopathy. The underlying re-occurring p.S85C mutation was identified in MATR3 gene 35. In 1998, Vicart and colleagues identified the first causative variant in the CRYAB gene causing a myopathy with accumulation of aggregates of desmin 113. Sagath L, Lehtokari VL, Valipakka S, et al. In the Italian family, the causative variant was found in DNAJB6, in a different locus from the one initially reported 185. The structure and regulation of human muscle alpha-actinin. DNAJB6 distal myopathy - DNAJB6 The disease was originally reported by Servidei and colleagues in a large Italian family with onset of ankle weakness between the second and sixth decades of life 184 , and usually . Salmikangas P, van der Ven PF, Lalowski M, et al. adj., adj myopathic. In 2019, ACTN2 gene was firstly identified to be a cause of a new adult-onset distal muscular dystrophy calling actininopathy and another distinctly different myopathy, named multiple structured core disease (MsCD). Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity, Long-read sequencing emerging in medical genetics, Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development. National Library of Medicine Boycott KM, Hartley T, Biesecker LG, et al. Central core disease due to recessive mutations in RYR1 gene: is it more common than described? An unusual phenotype of late-onset desminopathy, Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin, Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease, Intermediate filament diseases: desminopathy, Identification of a desmin gene mutation in scapuloperoneal syndrome type Kaeser, Desmin mutation responsible for idiopathic dilated cardiomyopathy, Prevalence of desmin mutations in dilated cardiomyopathy, A missense mutation in the b-crystallin chaperone gene causes a desmin-related myopathy, Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations, The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy, A novel CRYAB mutation resulting in multisystemic disease. Savarese M, Di Fruscio G, Torella A, et al. Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients. Kiiski KJ, Lehtokari VL, Vihola AK, et al. Distal myopathies - PubMed The FLNC gene encodes filamin, an actin ligand that plays an important role in mechanical stabilization, mechanosensation and intracellular signalling through a large network of interactors 174,175. ACTN2 encodes alpha-actinin2, a structural molecule of the Z-disks that interacts with titin and acts a scaffold of many other Z-disk located proteins such as myotilin 44-47. Although a clinical variability has been observed 66-73, the most common phenotype of pathogenic VCP variants is proximal myopathy with scapular winging, Paget disease and frontotemporal dementia (IBMPFD) 74-76. Cummings BB, Marshall JL, Tukiainen T, et al. Also, some of the DDs have been given different names based on various symptoms but may actually be caused by defects in the same gene. Clinical and molecular findings in a cohort of ANO5-related myopathy, Clinical spectrum and gene mutations in a Chinese cohort with anoctaminopathy. Laing distal myopathy is a condition that affects skeletal muscles, which are muscles that the body uses for movement. Mutations in DNAJB6, specifically in the G/F domain, cause more often a proximal myopathy (LGMD1D) 187-193. published a Swedish family with this title 54. DD causes weakness that starts in the lower arms and legs (the distal muscles). Khadilkar SV, Nallamilli BRR, Bhutada A, et al. Recently, a form of DNAJB6-related distal calf-predominant myopathy has been reported in patients with particular mutations in the N-terminal J-domain 194. In a second Italian family with otherwise similar phenotype reported by Duff et al. takes many forms, including polymyositis, dermatomyositis, inclusion body myositis, immune-mediated necrotizing myopathy, antisynthetase syndrome, and juvenile myositis. Many types involve dysferlin. Additional allelic diseases are core rod myopathy, and fetal akinesia/lethal multiple pterygium syndrome 259,265,266. CAV3 expression can be reduced. Weakness in ankle dorsiflexion and atrophy of anterior lower leg muscles (often asymmetric) start after age of 35 or much later. Panorama of the distal myopathies - PMC - National Center for Abath Neto O, Martins Cde A, Carvalho M, et al. The in-frame deletion results in a protein of reduced size with a dominant-negative effect 260. Vazquez J, Lefeuvre C, Escobar RE, et al. The term distal myopathy refers to a long list of genetic muscle diseases presenting at the onset with weakness of distal extremities, usually combined with progressive atrophy of the corresponding distal muscles. Interestingly, most currently known genes are also responsible for separate different clinical entities, confirming the extreme phenotypic divergence observed in the field of genetic myopathies 8. The pathomechanism of the ANO5-related GDD is still unclear. When a gene has a mutation, it may make a defective protein or none at all. EMG revealed denervation in the distal lower limbs and myopathic proximal changes. Molecular and muscle pathology in a series of caveolinopathy patients, Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia, Phenotypic variability in rippling muscle disease. Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture, Common pathogenic mechanism in patients with dropped head syndrome caused by different mutations in the MYH7 gene, Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment, Variant interpretation for dilated cardiomyopathy: refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study, Clinical utility of a phenotype-enhanced MYH7-specific variant classification framework in hypertrophic cardiomyopathy genetic testing, MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy, Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in the MYH7 gene. First described in 1902, DD is a class of muscular dystrophies that primarily affect distal muscles, which are those of the lower arms, hands, lower legs and feet. However, despite being characterized by a wide clinical and genetic heterogeneity, the distal myopathies are a category of muscular dystrophies: genetic diseases with progressive loss of muscle fibers. 8600 Rockville Pike Papadopoulos C, LaforEt P, Nectoux J, et al. Five distinct predominant distal myopathies have been identified with discrete clinical and genetic patterns. Hageman J, Rujano MA, van Waarde MA, et al. Serum creatine kinase (CK) is highly elevated already in the early stages of the disease or even in presymptomatic patients. Del Bigio MR, Chudley AE, Sarnat HB, et al. Goldfarb LG, Park KY, Cervenkova L, et al. A late-onset distal myopathy has been associated with heterozygous variants in MYOT gene 77-79. The myofibrillar myopathy with aggregates and rimmed vacuoles mimics the histopathological changes seen in myopathies caused by defects in BAG3 and DNAJB6 Distal myopathy caused by homozygous missense mutations in the nebulin gene. Perilipin 4 in human skeletal muscle: localization and effect of physical activity, Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. The https:// ensures that you are connecting to the Weakness of handgrip is the usual presentation followed by calf muscle plantar flexion weakness. Distal myopathies comprise a rare and heterogeneous group of disorders that present with weakness of the distal muscles of the hands, feet, or both. In 2004 the causative variant was identified in the MYH7 gene encoding the beta heavy chain of myosin 243. Savarese M, Valipakka S, Johari M, et al. At the same time, the number of causative variants, identified in large resequencing projects, has exponentially increased 3-7. Sialuria is an allelic dominant metabolic disease characterized by the accumulation of N-acetylneuraminic acid (NeuAc) due to missense variants in GNE 171. Entry - #604454 - WELANDER DISTAL MYOPATHY; WDM - OMIM CAV3-related distal myopathy: MedlinePlus Genetics Kontrogianni-Konstantopoulos A, Ackermann MA, Bowman AL, et al. The reason for some genetic defects to have preference for the distal limb muscles in causing loss of muscle tissue is unclear and understanding the molecular background for this preference may also harbour insight for therapeutic opportunities. Both children and adults can be affected. Six patients with the confirmed diagnoses of Laing distal myopathy were recruited. The distal myopathies are a rare and heterogeneous group of neuromuscular disorders. MRI shows degenerative changes of anterior lower leg muscles. Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy, Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation, Impact of dynamin 2 on adenovirus nuclear entry, Dynamin 2 (DNM2) as cause of, and modifier for, human neuromuscular disease. Phenotypic spectrum of myopathies with recessive anoctamin-5 mutations. Another missense change, p.C203Y, has been recently found to cause an upper limb distal myopathy with nemaline bodies 183. Laing myopathy was the first distal myopathy with established genetic linkage 237. Alrohaif H, Pogoryelova O, Al-Ajmi A, et al. Distal actininopathy is an autosomal dominant, adult onset distal myopathy starting usually with foot drop. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. The progression is very slow and adult patients do not have major disability. Distal myopathy (or distal muscular dystrophy) is a general term for a group of rare progressive genetic disorders characterized by wasting (atrophy) and weakness of the voluntary distal muscles. The early stage hypertrophy of calf muscles progresses into muscle atrophy 208. Phenotypic diversity in an international Cure VCP Disease registry, VCP myopathy: A family with unusual clinical manifestations. Symptoms of myotonic muscular dystrophy include: 14. Hamanaka K, Miyatake S, Koshimizu E, et al. Variants in the ultimate C-terminal region most often result in other skeletal myopathies (hyaline body myopathy) with or without cardiac involvement 252,253. More than 180 variants are currently known and founder mutations first reported from Middle East and Japan have been described in many populations 158-163. First described in a large North American family 34 and later in a large Bulgarian pedigree 35, vocal cord and pharyngeal distal myopathy (VCPDM) is characterized by adult-onset (between 35 and 60 years) distal weakness and weakness of vocal cord and pharyngeal muscles. DNM2 mutations in a cohort of sporadic patients with centronuclear myopathy. Distal muscular dystrophy (DD) is a group of rare diseases that affect your muscles (genetic myopathies). Myopathies may be passed on in families (inherited) or they may develop later in life (acquired). The genetic basis of undiagnosed muscular dystrophies and myopathies: results from 504 patients, A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield, Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned, The 2020 version of the gene table of neuromuscular disorders (nuclear genome), Myopathia distalis tarda hereditaria; 249 examined cases in 72 pedigrees. Olive M, Engvall M, Ravenscroft G, et al. Federal government websites often end in .gov or .mil. and by Argov and Yarom, the GNE distal myopathy is a rimmed vacuolar recessive myopathy with an early adult onset 153,154. All the forms of muscular dystrophy are inherited that is, theyre caused by mutations (changes) in a persons genes. Casar-Borota O, Jacobsson J, Libelius R, et al. This genetic combination of rare SQSTM1 causative variants and the common TIA1 polymorphism did not result in a Paget disease of the bone but caused the canonical Welander phenotype. Some of these disorders, such as dermatomyositis, polymyositis, and necrotizing myositis, present with. Variants in ACTN2 also cause congenital myopathy with structured cores and Z-line abnormalities 48. Bortolani S, Fattori F, Monforte M, et al. 1. With time, other muscle groups may become affected as well. The muscles shrink (atrophy). Pogoryelova O, Cammish P, Mansbach H, et al. The ADSSL gene encodes the muscle isozyme of adenylosuccinate synthase, the enzyme catalysing the initial reaction in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP) 271,272. Each gene contains the recipe for a different protein and its variations, and these proteins are necessary for our bodies to function correctly. Dominantly inherited distal nemaline/cap myopathy caused by a large deletion in the nebulin gene. Recessive titinopathies include a wide spectrum of diseases with a prenatal, congenital, childhood or later onset 30,31. It is both dominant and recessive in its nature. EMG shows myopathic changes and rimmed vacuoles are present in the biopsy. DD causes weakness that starts in the lower arms and legs (the distal muscles). Pathogenic changes in four genes (ADSSL, ANO5, DYSF, GNE) cause an autosomal recessive form; and disease-causing variants in five genes (DES, MYH7, NEB, RYR1 and TTN) result either in a dominant or in a recessive distal myopathy. First signs of the disease appear between 20 and 40 years of age and affect males and females at the same rate. Symptoms of distal myopathies vary as each of its roots has different reasons for the development. Muscular dystrophy with marked dysferlin deficiency is consistently caused by primary dysferlin gene mutations, A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film, The Italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis, The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients, The genetic profile of dysferlinopathy in a cohort of 209 cases: genotype-phenotype relationship and a hotspot on the inner DysF domain. CRYAB-related distal myopathy mainly involves the anterior part of the distal leg at the early stage and progresses with a milder proximal weakness. Bethesda, MD 20894, Web Policies Through a large number of alternative splicing events, TTN encodes for a large number of different transcripts, developmental-stage or tissue specific 23,24. Improving copy number variant detection from sequencing data with a combination of programs and a predictive model, Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy, Identification and characterization of splicing defects by single-molecule real-time sequencing technology (PacBio), Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation, Rimmed vacuole myopathy sparing the quadriceps. Miyoshi myopathy is a type of muscular dystrophy characterized by muscle weakness and atrophy (wasting), mainly in the distal parts of the legs. DD usually appears between ages 40 and 60. Myotilinopathy in a family with late onset myopathy, Mutations in myotilin cause myofibrillar myopathy, Different early pathogenesis in myotilinopathy compared to primary desminopathy, New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses, Distinct muscle imaging patterns in myofibrillar myopathies, The diagnostic value of MRI pattern recognition in distal myopathies.
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