Progressive expansion of the myotonic dystrophy CTG repeat in asymptomatic individuals in three successive generations of a family

Autor:	José Berciano, J. Paz, Onofre Combarros, J. L. Fernández-Luna
Rok vydání:	2013
Předmět:	Genetics education.field_of_study Ctg repeat Offspring business.industry Population medicine.disease Asymptomatic Myotonic dystrophy Neurology Mutation (genetic algorithm) medicine Neurology (clinical) Allele medicine.symptom education business Asymptomatic carrier
Zdroj:	European journal of neurology. 4(2)
ISSN:	1351-5101
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::956827f69e71dbd738624743c666d88a https://pubmed.ncbi.nlm.nih.gov/24283914 Zobrazit plný text záznamu Plný text