Rare Disease Library

Congenital myopathy with reduced type 2 muscle fibers

Congenital myopathy with type 2 muscle fiber atrophy · Congenital myopathy with fast-twitch fiber atrophy

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant benign distal spinal muscular atrophy · Congenital benign spinal muscular atrophy with contractures

Congenital fiber-type disproportion myopathy

CFTDM

Congenital lethal myopathy, Compton-North type

Congenital muscular dystrophy type 1B

CMD1B · MDC1B

Congenital muscular dystrophy type 1C

CMD1C · MDC1C

Congenital muscular dystrophy type 1D

MDC1D

Congenital muscular dystrophy with hyperlaxity

CMDH

Congenital muscular dystrophy, Fukuyama type

FCMD · Fukuyama congenital muscular dystrophy

Congenital myopathy

Congenital myopathy with cores

Congenital myopathy with excess of thin filaments

Actin myopathy

Congenital myopathy with internal nuclei and atypical cores

CNM4 · Centronuclear myopathy type 4

Congenital myopathy with myasthenic-like onset

Congenital myopathy, Paradas type

Laminin subunit alpha 2-related congenital muscular dystrophy

CMD1A · Congenital muscular dystrophy due to laminin alpha2 deficiency

OBSOLETE: Congenital myopathy with central nuclei

OBSOLETE: Congenital myopathy with fiber size variation

OBSOLETE: Congenital myopathy with vacuoles

X-linked myopathy with postural muscle atrophy

XMPMA