Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy
Journal of Genetic Medicine
; : 75-79, 2017.
Article
в En
| WPRIM
| ID: wpr-179816
Ответственная библиотека:
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.
Key words
Полный текст:
1
База данных:
WPRIM
Основная тема:
Biopsy
/
Genetic Testing
/
Exons
/
Muscle, Skeletal
/
Muscle Weakness
/
Muscular Dystrophy, Duchenne
/
Diagnosis, Differential
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Genetic Counseling
/
Muscular Dystrophies
Тип исследования:
Diagnostic_studies
/
Prognostic_studies
Пределы темы:
Humans
Язык:
En
Журнал:
Journal of Genetic Medicine
Год:
2017
Тип:
Article