Myofibrillar myopathy 8

Definition

Any myofibrillar myopathy in which the cause of the disease is a mutation in the PYROXD1 gene.

Also known as myofibrillar myopathy (disease) caused by mutation in PYROXD1, myofibrillar myopathy 8, myopathy, myofibrillar, 8, myopathy, myofibrillar, type 8, PYROXD1 myofibrillar myopathy (disease) — per MONDO

Also identified as

• DOID 0080308 per MONDO
• OMIM 617258 per MONDO
• UMLS C4310645 per MONDO