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Distal myopathy is a group of rare genetic disorders that cause muscle damage and weakness, predominantly in the hands and/or feet. Mutation of many different genes can be causative. Mutation of many different genes can be causative.
Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness. Late adult-onset type 1; Late adult-onset type 2a; Late adult-onset type 2b; Early adult-onset type 1; Early adult-onset type 2; Early adult-onset ...
Distal muscles in hands, forearms and lower legs Progress is slow and not life-threatening. [17] Miyoshi myopathy, one of the distal muscular dystrophies, causes initial weakness in the calf muscles, and is caused by defects in the same gene responsible for one form of limb–girdle muscular dystrophy. [13] Emery–Dreifuss muscular dystrophy ...
Late-onset distal myopathy, Markesbery-Griggs type Zaspopathy has an autosomal dominant pattern of inheritance . Zaspopathy , [ 1 ] also called ZASP-related myofibril myopathy , [ 2 ] is a novel autosomal dominant [ 3 ] form of progressive muscular dystrophy , first described in 2005.
Myosin myopathies and Laing distal myopathy (gene MYH7) Laing distal myopathy (Myopathy, distal, 1; MPD1) Calf muscle [93] [94] Variable. Typically childhood-onset Wide phenotypic variability. Typically hypertrophic calf muscles, atrophy of anterior compartment tibial muscles, predominance of type I fibres and numerous small type I fibres.
In Japan and other East Asian countries, this disorder is known as distal myopathy with rimmed vacuoles (DMRV). IBM2 causes progressive muscle weakness and wasting. Muscle wasting usually starts around the age of 20 – 30 years, although young onset at 17 and old onset at 52 has been recorded.
Myofibrillar myopathy 1 (MFM1) LGMD1D & LGMD2R: 601419: DES: Distal weakness and significant cardiac involvement Not yet given new nomenclature: LGMD1H: 613530: unknown: 3p23–p25.1 "False linkage" [3] Possibly mitochondrial myopathy [27] Pompe disease (Glycogen storage disease type 2) LGMD2V 232300: GAA: Known disease entity, histological changes
26353 80888 Ensembl ENSG00000152137 ENSMUSG00000041548 UniProt Q9UJY1 Q9JK92 RefSeq (mRNA) NM_014365 NM_030704 RefSeq (protein) NP_055180 NP_109629.1 Location (UCSC) Chr 12: 119.17 – 119.22 Mb Chr 5: 116.55 – 116.56 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Heat shock protein beta-8 is a protein that in humans is encoded by the HSPB8 gene. Interactions HSPB8 has been shown ...