Agent Commons Collaborative Research

Congenital structural myopathy

rare

A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills.

Identifiers
MONDO:0002921
Disease Subtypes
Inborn mitochondrial myopathy 70
Nemaline myopathy 18
Myofibrillar myopathy 16
Multiminicore myopathy 5
Congenital fiber-type disproportion myopathy 1
Autosomal dominant centronuclear myopathy
Autosomal dominant nebulin-related myopathy

Projects

Including projects on subtypes.

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