Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy.

ABSTRACT: Novel genetic variants exist in patients with hereditary neuromuscular disorders (NMD), including muscular dystrophy. These patients also develop cardiac manifestations. However, the association between these gene variants and cardiac abnormalities is understudied. To determine genetic modifiers and features of cardiac disease in NMD patients, we have reviewed electronic medical records of 651 patients referred to the Muscular Dystrophy Association Care Center at the University of Cincinnati and characterized the clinical phenotype of 14 patients correlating with their next-generation sequencing data. The data were retrieved from the electronic medical records of the 14 patients included in the current study and comprised neurologic and cardiac phenotype and genetic reports which included

SUBMITTER: Bazrafshan S 

PROVIDER: S-EPMC7915259 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature