Myopathy, tubular aggregate, 1

Definition

Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene.

Also known as myopathy, tubular aggregate, 1, STIM1 tubular aggregate myopathy, tubular aggregate myopathy caused by mutation in STIM1 — per MONDO

Also identified as

• OMIM 160565 per MONDO
• UMLS C4011726 per MONDO