KEGG DISEASE: Laing distal myopathy

KEGG

DISEASE: Laing distal myopathy

Entry

H01977                      Disease

Name

Laing distal myopathy;
Myopathy, distal 1 (MPD1)

Supergrp

Distal myopathy [DS:H00594]

Description

Laing distal myopathy (MPD1) is an early onset autosomal dominant distal myopathy. Selective weakness of the anterior tibial muscles is followed by weakness of the finger extensors and of selected proximal muscle groups, such as the abductors and rotators. This disease is caused by mutations in MYH7, the gene encoding the myosin heavy chain, which is expressed in type 1 fibers of skeletal muscle and in the heart.

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
     H01977  Laing distal myopathy

Gene

MYH7 [HSA:4625] [KO:K17751]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A

Title

New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.

Journal

Neurology 68:2041-2 (2007)
DOI:10.1212/01.wnl.0000264430.55233.72

Reference

Authors

Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG

Title

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

Journal

Am J Hum Genet 75:703-8 (2004)
DOI:10.1086/424760

LinkDB

» Japanese version

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