
Nemaline myopathy with dilated cardiomyopathy and severe heart failure: A case report
Author(s) -
Qian Wang,
Fan Hu
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i11.2569
Subject(s) - medicine , dilated cardiomyopathy , heart failure , cardiology , cardiomyopathy , myopathy , restrictive cardiomyopathy
Nemaline myopathy (NM) is a rare type of congenital myopathy, with an incidence of 1:50000. Patients with NM often exhibit hypomyotonia and varying degrees of muscle weakness. Skeletal muscles are always affected by this disease, while myocardial involvement is uncommon. However, with improvements in genetic testing technology, it has been found that NM with a mutation in the myopalladin ( MYPN ) gene not only causes slow, progressive muscle weakness but also results in dilated or hypertrophic cardiomyopathy.