Myopathy, distal, 5

Definition

Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene.

Also known as adenylosuccinate synthetase-like 1-related distal myopathy, ADSSL1 distal myopathy, ADSSL1-related distal myopathy, distal myopathy caused by mutation in ADSSL1, MPD5, myopathy, distal, 5; MPD5, myopathy, distal, type 5 — per MONDO

Also identified as

• OMIM 617030 per MONDO
• Orphanet 482601 per MONDO
• UMLS C5567521 per MONDO