title: [Molecular genetic study in congenital myotonic dystrophy].
abstract: Congenital myotonic dystrophy (CMD) is the neonatal form of Steinert's myotonia. However, the symptoms and neuro-physiological findings are different from the classical adult form, there is a high mortality and early diagnosis of the condition is difficult. CMD occurs as a result of abnormal expansion of CTG triplets on chromosome 19. There is dominant autosomal transmission of this multi-systemic disorder, although when it occurs in children, it is the mother who is always the affected parent. Molecular genetic techniques enable unequivocal diagnosis of the condition, evaluation of anticipation and the possibility of offering genetic counselling to the families involved.
authors.affiliation: Servicio de Pediatria, Hospital Juan Ramón Jiménez, Huelva, España.
authors.forename: P
authors.initials: P
authors.lastname: Martín
authors.forename: J
authors.initials: J
authors.lastname: Sierra
authors.forename: A
authors.initials: A
authors.lastname: Losada
authors.forename: M
authors.initials: M
authors.lastname: Rufo
authors.forename: M
authors.initials: M
authors.lastname: Lucas
mesh_terms: D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002888:Chromosomes, Human, Pair 19; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008967:Molecular Biology; D009223:Myotonic Dystrophy / Q000151:congenital* / Q000235:genetics*
vernacular_title: Estudio genético molecular en la distrofia miotónica congénita.