Identification of two novel Duchenne muscular dystrophies mutations in patients with Becker muscular dystrophy
Journal of Genetic Medicine
;
: 75-79, 2017.
Artículo
en Inglés
| WPRIM
| ID: wpr-179816
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Biopsia
/
Pruebas Genéticas
/
Exones
/
Músculo Esquelético
/
Debilidad Muscular
/
Distrofia Muscular de Duchenne
/
Diagnóstico Diferencial
/
Asesoramiento Genético
/
Distrofias Musculares
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Humanos
Idioma:
Inglés
Revista:
Journal of Genetic Medicine
Año:
2017
Tipo del documento:
Artículo
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