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Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy
Article in En | WPRIM | ID: wpr-179816
Responsible library: WPRO
ABSTRACT
Duchenne and Becker muscular dystrophies (DMD and BMD, respectively) are X-linked neuromuscular disorders characterized by progressive muscle weakness and severe skeletal muscle degeneration. BMD is a milder form with a later onset. Patients with BMD tend to survive much longer than those with DMD. The differentiation between DMD and BMD is important in the genetic counseling of affected patients and their families. Since muscle biopsies are invasive procedures, the differential diagnosis of BMD and DMD is often dependent on the mutation identified in the DMD gene in affected patients. However, when a novel DMD mutation is identified, the differential diagnosis should be based on muscle biopsy findings with other clinical findings. Here we describe two Korean patients with BMD confirmed by muscle biopsy and genetic testing. Two novel exonic deletions in the DMD gene were identified.
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Full text: 1 Index: WPRIM Main subject: Biopsy / Genetic Testing / Exons / Muscle, Skeletal / Muscle Weakness / Muscular Dystrophy, Duchenne / Diagnosis, Differential / Genetic Counseling / Muscular Dystrophies Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Journal of Genetic Medicine Year: 2017 Type: Article
Full text: 1 Index: WPRIM Main subject: Biopsy / Genetic Testing / Exons / Muscle, Skeletal / Muscle Weakness / Muscular Dystrophy, Duchenne / Diagnosis, Differential / Genetic Counseling / Muscular Dystrophies Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Journal of Genetic Medicine Year: 2017 Type: Article