A case of congenital myotonic dystrophy: Molecular diagnosis and clinical study / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 2302-2306, 2001.
Artigo
em Coreano
| WPRIM
| ID: wpr-134882
ABSTRACT
Congenital myotonic dystrophy is a severe and early-onset form of myotonic dystrophy (DM) with a prevalence of 2.5-5.5/100,000 live births. Expansion of the trinucleotide CTG repeat in the 3 untranslated region of the DM gene, which is located at a chromosome 19q13.3 is a common mutation in DM. Clinical features are generalized hypotonia (floppy infant), respiratory and feeding difficulty, and the neonatal mortality rate is approximately 40%. We experienced a case of recurrent congenital myotonic dystrophy, and report with a review of related literatures. Women with recurrent neonatal hypotonia or ultrasonographic evidence of hypotonia, including positional abnormalities of the extremities and idiopathic polyhydramnios, should be offered testing for the genetic studies for myotonic mutation, such as PCR (Polymerase chain reaction) analysis and Southern blot analysis.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Mortalidade Infantil
/
Southern Blotting
/
Reação em Cadeia da Polimerase
/
Prevalência
/
Poli-Hidrâmnios
/
Regiões não Traduzidas
/
Diagnóstico
/
Nascido Vivo
/
Extremidades
Tipo de estudo:
Estudo diagnóstico
/
Estudo de prevalência
Limite:
Feminino
/
Humanos
/
Lactente
Idioma:
Coreano
Revista:
Korean Journal of Obstetrics and Gynecology
Ano de publicação:
2001
Tipo de documento:
Artigo
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