myopathy, centronuclear, 5

Rare Disease

MONDO:0014418

Also Known As

SPEG autosomal recessive centronuclear myopathyautosomal recessive centronuclear myopathy caused by mutation in SPEGcentronuclear myopathy 5myopathy, centronuclear, 5myopathy, centronuclear, type 5CNM5

Definition

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

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Associated Genes

SPEG ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:615959 ↗

GARD

GARD:16035 ↗

Related Diseases

myopathy, centronuclear, 2

MONDO:0009709

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