Myofibrillar myopathy in the genomic context
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Applied Genetics"
DOI: 10.1007/s13353-018-0463-4
Abstract: Myofibrillar myopathy (MFM) is a group of inherited muscular disorders characterized by myofibril dissolution and abnormal accumulation of degradation products. The diagnosis of muscular disorders based on clinical presentation is difficult due to phenotypic heterogeneity… read more here.
Keywords: myofibrillar myopathy; myopathy genomic; heterogeneity; genomic context ... See more keywords
Metformin rescues muscle function in BAG3 myofibrillar myopathy models
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DOI: 10.1080/15548627.2020.1833500
Abstract: ABSTRACT Dominant de novo mutations in the co-chaperone BAG3 cause a severe form of myofibrillar myopathy, exhibiting progressive muscle weakness, muscle structural failure, and protein aggregation. To elucidate the mechanism of disease in, and identify… read more here.
Keywords: protein; myofibrillar myopathy; muscle; bag3 ... See more keywords
Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.
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DOI: 10.1089/gtmb.2018.0004
Abstract: BACKGROUND Protein aggregate myopathies (PAM) represent a group of familial or sporadic neuromuscular conditions with marked clinical and genetic heterogeneity that occur in children and adults. Familial PAM includes myofibrillar myopathies defined by the presence… read more here.
Keywords: mutations demographic; demographic clinical; myofibrillar myopathy; clinical morphological ... See more keywords
GNE Myopathy as a Myofibrillar Myopathy: Potential Important Disease Mechanism Implied by Muscle Biopsy.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuromuscular Disease"
DOI: 10.1097/cnd.0000000000000317
Abstract: We report a case of 2 sisters in their 20s with genetically confirmed UDP-N-acetylglucoasmine 2-epimerase/N-acetylmannosamine kinase myopathy along with muscle biopsy findings. Both patients described slowly progressive signs of distal-predominant weakness since adolescence that had… read more here.
Keywords: gne myopathy; myofibrillar myopathy; muscle biopsy;
Wide Spectrum of Cardiac Phenotype in Myofibrillar Myopathy Associated With a Bcl-2-Associated Athanogene 3 Mutation: A Case Report and Literature Review.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of clinical neuromuscular disease"
DOI: 10.1097/cnd.0000000000000392
Abstract: ABSTRACT Myofibrillar myopathy is a clinically and genetically heterogeneous group of muscle disorders characterized by myofibrillar degeneration. Bcl-2-associated athanogene 3 (BAG3)-related myopathy is the rarest form of myofibrillar myopathy. Patients with BAG3-related myopathy present with… read more here.
Keywords: bcl associated; associated athanogene; myopathy; mutation ... See more keywords
Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests.
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DOI: 10.1111/evj.13574
Abstract: BACKGROUND Genetic tests for variants in MYOT (P2; rs1138656462), FLNC (P3a; rs1139799323 or P3b; rs1142918816) and MYOZ3 (P4; rs1142544043), genes are offered commercially to diagnose myofibrillar myopathy (MFM) and type 2 polysaccharide storage myopathy (PSSM2) in… read more here.
Keywords: histopathology; genetic tests; p3a p3b; myofibrillar myopathy ... See more keywords
c.3G>A mutation in the CRYAB gene that causes fatal infantile hypertonic myofibrillar myopathy in the Chinese population.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of integrative neuroscience"
DOI: 10.31083/j.jin.2021.01.267
Abstract: Infantile hypertonic myofibrillar myopathy is characterized by the rapid development of rigid muscles and respiratory insufficiency soon after birth, with very high mortality. It is extremely rare, and only a few cases having been reported… read more here.
Keywords: myofibrillar myopathy; mutation cryab; infantile hypertonic; cryab gene ... See more keywords
Corrigendum: Expanding the Clinico-Genetic Spectrum of Myofibrillar Myopathy: Experience From a Chinese Neuromuscular Center
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2020.636981
Abstract: [This corrects the article DOI: 10.3389/fneur.2020.01014.]. read more here.
Keywords: spectrum myofibrillar; myofibrillar myopathy; corrigendum expanding; clinico genetic ... See more keywords