Myopathy, centronuclear, 5

Definition

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

Also known as autosomal recessive centronuclear myopathy caused by mutation in SPEG, myopathy, centronuclear, 5, myopathy, centronuclear, type 5, SPEG autosomal recessive centronuclear myopathy — per MONDO

Also identified as

• DOID 0111222 per MONDO
• OMIM 615959 per MONDO
• UMLS C4014814 per MONDO