Ontology highlight
ABSTRACT:
SUBMITTER: Cassini TA
PROVIDER: S-EPMC10023425 | biostudies-literature | 2023 Mar
REPOSITORIES: biostudies-literature
Cassini Thomas A TA Malicdan May Christine V MCV Macnamara Ellen F EF Lehky Tanya T Horkayne-Szakaly Iren I Huang Yan Y Jones Robert R Godfrey Rena R Wolfe Lynne L Gahl William A WA Toro Camilo C
Neuromuscular disorders : NMD 20221228 3
MYH2 encodes MyHCIIa, a myosin heavy chain found in fast type 2A fibers. Pathogenic variants in this gene have previously been implicated in dominant and recessive forms of myopathy. Three individuals reported here are part of a family in which four generations of individuals are affected by a slowly progressive, predominantly proximal myopathy in an autosomal dominant inheritance pattern. Affected individuals in this family lacked classic features of an MYH2-associated myopathy such as congenit ...[more]