Korean Circ J.  1998 May;28(5):805-811. 10.4070/kcj.1998.28.5.805.

Deletion of Exon in the Dystrophin Gene in a Case of Becker Muscular Dystrophy with Cardiac Involvement

• Kim KI
• Oh BH
• Rhee MY
• Chae IH
• Shin S
• Park SS
• Kim HS
• Sohn DW
• Lee MM
• Park YB
• Choi YS
• Lee YW

• KMID: 2229096
• DOI: http://doi.org/10.4070/kcj.1998.28.5.805

Abstract

Progressive muscular dystrophy (PMD) is an X-linked recessive primary muscular disease characterized by progressive muscular weakness. It causes gait disturbance and complications such as pneumonia, heart failure, and aspiration, so lead to death. Becker muscular dystrophy (BMD) is a milder type of PMD, of which incidence is 5 cases per 100,000 populations. It begins later and evolves more slowly than Duchenne muscular dystrophy (DMD). In PMD patients without heart failure symptom, there may be ECG abnormality or ventricular dilatation, impaired ventricular function which is consistent with dilated cardiomyopathy, especially in DMD. In BMD, heart failure is rare but ECG or echocardiographic abnormality is often found. With the advance of molecular genetics, mutations of the dystrophin gene is proved to be related to the pathogenesis of PMD and dilated cardiomyopathy. We confirmed the deletion of exon 43-51 in the dystrophin gene a case of BMD with asymptomatic dilated cardiomyopathy, diagnosed by echocardiography.

Keyword

Becker muscular dystrophy; Dystrophin; Exon deletion; Dilated cardiomyopathy

MeSH Terms

Cardiomyopathy, Dilated
Dilatation
Dystrophin*
Echocardiography
Electrocardiography
Exons*
Gait
Heart Failure
Humans
Incidence
Molecular Biology
Muscle Weakness
Muscular Diseases
Muscular Dystrophies
Muscular Dystrophy, Duchenne*
Pneumonia
Ventricular Function
Dystrophin