has material basis in germline mutation in MYPN MYPN-related myopathy https://www.malacards.org/card/congenital_myopathy_24 https://www.malacards.org/card/nemaline_myopathy_11 UMLS:C4479186 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. DOID:0110933 GARD:0016222 NEM11 OMIM:617336 MYPN-related myopathy nemaline myopathy type 11 nemaline myopathy 11 MONDO:0015023 nemaline myopathy caused by mutation in MYPN nemaline myopathy 11, autosomal recessive MYPN nemaline myopathy MEDGEN:1384302 nemaline myopathy