Genotype-phenotype correlation in myotonic dystrophy.

doi:10.1034/j.1399-0004.1998.531530105.x

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Article

Genotype-phenotype correlation in myotonic dystrophy.

Clinical genetics - 1 Jan 1998

Gharehbaghi-Schnell E B, Finsterer J, Korschineck I, Mamoli B, Binder B R

Abstract excerpt

Myotonic dystrophy (DM) is caused by a mutation in the length of a trinucleotide (CTG) repeat in the 3' untranslated region of the myotonin protein kinase gene located on chromosome 19q13.3. The normal gene has between 5 and 36 CTG trinucleotide repeats, whereas minimally affected individuals hav...

Topics

Adolescent
Adult
Aged
Aged, 80 and over
Child
Female
Genotype
Humans
Male
Middle Aged
Myotonic Dystrophy
Phenotype
Trinucleotide Repeats

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