Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare autosomal recessive congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy including facial weakness, ocular abnormalities (ptosis and external ophthalmoplegia) and predominant proximal muscle weakness of variable severity with possible distal involvement. Disease data Classification Disease Synonyms AR-CNM AR-CNM ORPHA code 169186 OMIM code 615959 ICD10 code G71.2 ICD11 code 8C72.01 *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl