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Article

Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.

Journal of medical genetics - 1 Feb 1995

Cobo A M, Poza J J, Martorell L, López de Munain A, Emparanza J I, Baiget M

Abstract excerpt

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 repeats). When the...

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Identifiers

PMID: 7760317
DOI: 10.1136/jmg.32.2.105
PMCID: PMC1050229

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Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy.PMID 7760317Read ↗

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