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MYH7-related skeletal myopathy

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.
Uniprot Description A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.
Disease Ontology Description A distal muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.
Mondo Term and Equivalent IDs
MONDO:0008050:  MYH7-related skeletal myopathy
GARD:0010769: 
Orphanet:59135: 
SCTID:764859001: 
UMLS:CN074249: