Congenital myotonic dystrophy with asymptomatic mother.
نویسندگان
چکیده
Myotonic dystrophy is an autosomal dominant neuromuscular disorder characterised by extreme pleiotropism and variability in disease expression. A congenital form is rare and is observed in infants born to symptomatic mothers with multisystem involvement. We report a case of a neonate with congenital myotonic dystrophy born to an asymptomatic mother.
منابع مشابه
Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.
A molecular analysis of the maternal and child CTG repeat size and intergenerational amplification was performed in order to estimate the risk of having a child with congenital myotonic dystrophy (CMD). In a study of 124 affected mother-child pairs (42 mother-CMD and 82 mother-non-CMD) the mean maternal CTG allele in CMD cases was three times higher (700 repeats) than in non-CMD cases (236 repe...
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متن کاملInfluence of the sex of the transmitting grandparent in congenital myotonic dystrophy.
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ورودعنوان ژورنال:
- Indian pediatrics
دوره 48 7 شماره
صفحات -
تاریخ انتشار 2011