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Progress in the diagnosis and treatment of congenital fiber-type disproportion / 国际儿科学杂志
International Journal of Pediatrics ; (6): 124-127, 2017.
Artigo em Chinês | WPRIM | ID: wpr-514153
ABSTRACT
Congenital fiber-type disproportion (CFTD) is a rare form of congenital myopathy,characterized by non-progressive generalized muscle weakness from early childhood.Diagnosis depends on crucial histological abnormality that type 1 muscle fibers are consistently smaller than type 2 fibers in the absence of other specific histological abnormalities.Whether CFTD should be regarded as a distinct diagnostic entity has always been a controversial issue.Many pathogenic genes have been identified in recent years.This article reviews clinical manifestation,pathology,genetic diagnosis and treatment progress of CFTD.

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Tipo de estudo: Estudo diagnóstico Idioma: Chinês Revista: International Journal of Pediatrics Ano de publicação: 2017 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Tipo de estudo: Estudo diagnóstico Idioma: Chinês Revista: International Journal of Pediatrics Ano de publicação: 2017 Tipo de documento: Artigo