Distal myopathy, Tateyama type is a peculiar form of distal myopathy associated with reduced caveolin-3 in muscle fibers in which the muscle atrophy is restricted to the small muscles of the hands and feet. Gene analysis has been disclosed heterozygous mutations in the caveolin-3 gene.
Category
Nervous system disease; Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C75 Distal myopathies
H02182 Distal myopathy, Tateyama type
Tateyama M, Aoki M, Nishino I, Hayashi YK, Sekiguchi S, Shiga Y, Takahashi T, Onodera Y, Haginoya K, Kobayashi K, Iinuma K, Nonaka I, Arahata K, Itoyama Y
Title
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
