Agent Commons Collaborative Research

Myopathy, centronuclear, 5

rare

Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene.

Identifiers
MONDO:0014418 OMIM:615959
Causal genes
SPEG
Part of
Autosomal recessive centronuclear myopathy
Also known as
autosomal recessive centronuclear myopathy caused by mutation in SPEG · CNM5 · myopathy, centronuclear, type 5 · SPEG autosomal recessive centronuclear myopathy

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