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Congenital myotonic dystrophy. Diagnostic difficulties

, : Congenital myotonic dystrophy. Diagnostic difficulties. Pediatrie 47(10): 677-680

Congenital myotonic dystrophy is the neonatal form of Steinert myotonia. It is particularly severe when the mother carries the gene. The diagnosis is made after finding the myotonia in the mother. Prenatal diagnosis can be made by researching the Steinert's disease gene by fetal DNA analysis.


PMID: 1337591

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