Limb-girdle muscular dystrophy type 2G: clinical, pathological and genetic analysis of a case / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 476-478, 2014.
Artigo
em Chinês
| WPRIM
| ID: wpr-291749
ABSTRACT
<p><b>OBJECTIVE</b>To investigate TCAP gene mutation and clinical features of a Chinese patient with limb-girdle muscular dystrophy type 2G(LGMD 2G).</p><p><b>METHODS</b>Clinical data of the patient was analyzed. Exons of the TCAP gene were amplified and sequenced.</p><p><b>RESULTS</b>The patient has presented clinically as LGMD and pathologically as vacuolar myopathy. Genetic analysis has identified compound heterozygous mutations of exons 1 and 2 of the TCAP gene(c.100delC, c.166insG).</p><p><b>CONCLUSION</b>LGMD is a group of neuromuscular disorders with substantial phenotypic heterogeneity. Genetic diagnosis has become indispensable for accurate diagnosis for patients suspected to have the disease.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Dados de Sequência Molecular
/
Sequência de Bases
/
Éxons
/
Distrofia Muscular do Cíngulo dos Membros
/
Conectina
/
Genética
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2014
Tipo de documento:
Artigo
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