MYPN-related myopathy
MYPN-related myopathy
Definition
Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions.
Also known as MYPN nemaline myopathy, MYPN-related myopathy, NEM11, nemaline myopathy 11, nemaline myopathy 11, autosomal recessive, nemaline myopathy caused by mutation in MYPN, nemaline myopathy type 11 — per MONDO