Rhabdomyolysis and Metabolic Myopathy
Gene: MYH3
Myosins constitute a large superfamily proteins, which convert chemical energy, through ATP hydrolysis, to mechanical force for diverse cellular movements, such as cell migration and muscle contraction. The class Ⅱ myosin forms the filaments in muscle and non-muscle cells as a hexameric protein complex, consisting of two myosin heavy chain (MyHC) subunits and two pairs of non-identical light chain subunits. There are several MyHC isoforms encoded by different genes of the MYH family in humans.
Variants in MYH3 are primarily associated with distal arthrogryposis syndromes secondary to an underlying myopathy. Multiple families reported.Created: 14 May 2022, 3:20 a.m. | Last Modified: 14 May 2022, 3:20 a.m.
Panel Version: 0.14272
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469
Publications
Single case with rhabdomyolysis reported.
Sources: Expert listCreated: 29 May 2020, 1:38 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
paresthesia; rhabdomyolysis
Publications
Gene: myh3 has been classified as Red List (Low Evidence).
gene: MYH3 was added gene: MYH3 was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH3 were set to 28779239 Phenotypes for gene: MYH3 were set to paresthesia; rhabdomyolysis Review for gene: MYH3 was set to RED