Case report: A rare case of left ventricular noncompaction in two Chinese siblings with becker muscular dystrophy caused by deletion of exons 10 to 12 in the DMD gene.

ABSTRACT:

Background

Becker muscular dystrophy (BMD) is an inherited X-linked recessive condition resulting from mutations of the DMD gene encoding dystrophin. Left ventricular noncompaction (LVNC) is a rare cardiomyopathy morphologically characterized by abnormal myocardial trabeculae and deep recesses in the left ventricle. LVNC in BMD patients has only rarely been reported.

Case report

In the present study, we identified a deletion mutation in exons 10 to 12 (EX10_12 del) of the DMD gene (reference sequence NM_004006.2) in two Chinese siblings with BMD and LVNC by high throughput targeted next-generation sequencing (NGS) and quantitative polymerase chain reaction (qPCR). The proband was a 22-year-old man admitted with dyspnea, abdominal distention, and polyserositis.

SUBMITTER: Li J 

PROVIDER: S-EPMC10538561 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature