Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy
نویسندگان
چکیده
منابع مشابه
Comprehensive Muscular Dystrophy / Myopathy Panel
Different muscular dystrophies and myopathies can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner. More than 50 loci have been associated to different forms of limb-girdle muscular dystrophy (LGMD) alone, making accurate diagnosis and genetic counseling a real challenge. This comprehensive panel is designed to achieve the highest clinical yield and enable the diff...
متن کاملComprehensive Muscular Dystrophy / Myopathy Panel
Different muscular dystrophies and myopathies can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner. More than 50 loci have been associated to different forms of limb-girdle muscular dystrophy (LGMD) alone, making accurate diagnosis and genetic counseling a real challenge. This comprehensive panel is designed to achieve the highest clinical yield and enable the diff...
متن کاملFHL1 protein isoforms in Emery-Dreifuss muscular dystrophy
Emery-Dreifuss muscular dystrophy (EDMD) is a hereditary muscular disorder characterized by early joint contractures, progressive muscular wasting and weakness of scapuloperoneal distribution, and at adult age, patients develop cardiac abnormalities with a high risk of sudden death [1]. EDMD encompasses both X-linked and autosomal inheritance due to mutations in the genes encoding the nuclear e...
متن کاملComprehensive Muscular Dystrophy / Myopathy Panel Plus
Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel (version 1, March 9, 2016) consists of sequence analysis of genes associated with distal myopathy and muscular dystrophy: ACTA1, ANO5, CAPN3, CAV3, CFL2, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL12A1, DES, DMD, DNAJB6, DYSF, EMD, FHL1*, FKRP, FKTN, GMPPB, ISPD, KBTBD13, KLHL40, KLHL41, LAMA2, LARGE, LIMS2, LMNA, LMOD3, MTM1,...
متن کاملFHL1 Reduces Dystrophy in Transgenic Mice Overexpressing FSHD Muscular Dystrophy Region Gene 1 (FRG1)
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease with no effective treatment. The genetic cause of FSHD is complex and the primary pathogenic insult underlying the muscle disease is unknown. Several disease candidate genes have been proposed including DUX4 and FRG1. Expression analysis studies of FSHD report the deregulation of genes which mediate myoblast differen...
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ژورنال
عنوان ژورنال: Neurology
سال: 2011
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e31823a0ebe