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. [ http://www.ncbi.nlm.nih.gov/pubmed/28017374 https://clinicalgenome.org/affiliation/40031/ ]
Synonyms: nemaline myopathy 11 nemaline myopathy type 11 MYPN-related myopathy nemaline myopathy 11, autosomal recessive nemaline myopathy caused by mutation in MYPN NEM11 MYPN nemaline myopathy
Term information
- GARD:16222 (OMIM:617336)
- UMLS:C4479186 (MONDO:equivalentTo)
- UMLS:C4479695 (MONDO:equivalentObsolete)
- OMIM:617336 (MONDO:equivalentTo)
- DOID:0110933 (MONDO:equivalentTo)
gard_rare, rare, nord_rare, clingen
http://purl.obolibrary.org/obo/DOID_0110933
http://linkedlifedata.com/resource/umls/id/C4479186
https://omim.org/entry/617336