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Progressive expansion of the myotonic dystrophy CTG repeat in asymptomatic individuals in three successive generations of a family
Author(s) -
Combarros O.,
Paz J.,
Berciano J.,
FernándezLuna J. L.
Publication year - 1997
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/j.1468-1331.1997.tb00327.x
Subject(s) - myotonic dystrophy , medicine , asymptomatic , pediatrics , trinucleotide repeat expansion , family history , genetics , allele , biology , gene
We report a family in which expansion of CTG repeats was detected in asymptomatic carriers of the myotonic dystrophy allele in three successive generations. PCR‐based analysis of the expanded CTG repeat revealed intergenerational amplification of the mutation. We show here that the myotonic dystrophy mutation may remain clinically silent, not only in the oldest generation of a family, but even among siblings and offspring of symptomatic cases. This may represent a mechanism for the maintenance of the myotonic dystrophy gene in the population