Study of dystrophin gene non-deletion/duplication mutations causing Becker muscular dystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 308-312, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-326940
ABSTRACT
<p><b>OBJECTIVE</b>To identify potential mutations in patients featuring Becker muscular dystrophy (BMD) and to enhance the understanding of non-deletion/duplication mutations of the dystrophin gene causing BMD.</p><p><b>METHODS</b>Clinical data of two patients affected with BMD were collected. Potential mutations in the dystrophin gene were screened with multiplex ligation-dependent probe amplification assay (MLPA). Biopsied muscle samples were examined with HE staining, immnostaining with anti-dystrophin antibody, and electronic microscopy.</p><p><b>RESULTS</b>MLPA assay suggested that both cases were probably due to non-deletion/duplication mutations of the dystrophin gene. Light and electronic microcopy of skeletal muscle biopsies confirmed dystrophic changes in both patients. For patient A, immunostaining showed non-contiguous weak staining for most parts of sarcolemma. For patient B, immunostaining showed positive result with N-terminal anti-dystrophin antibody and negative result with C-terminal anti-dystrophin antibody.</p><p><b>CONCLUSION</b>For patients with mild phenotypes but without dystrophin gene deletion/duplication, muscle biopsy and immunochemistry are helpful for diagnosis and prognosis.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Distrofina
/
Músculo Esquelético
/
Distrofia Muscular de Duchenne
/
Genética
/
Metabolismo
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Adulto
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2011
Tipo de documento:
Artigo
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