Article
[Myotonic dystrophy: magnetic resonance tomography and clinico-genetic correlations].
Der Nervenarzt - 1 Jun 1995
Damian M S, Koch M C, Bachmann G, Schilling G, Fach B, Stöppler S, Trittmacher S, Dorndorf W
Abstract excerpt
Myotonic dystrophy (DM) is an autosomal dominant multisystem disorder involving muscle, brain, heart, eyes and endocrine organs, among others. The molecular basis is an unstable trinucleotide repeat at the 3'-untranslated end of the myotonin protein kinase gene on chromosome 19 q 13.3, and the nu...
Topics
- Adolescent
- Adult
- Brain
- Child
- Chromosomes, Human, Pair 19
- Disability Evaluation
- Female
- Genotype
- Humans
- Intelligence
- Magnetic Resonance Imaging
- Male
- Middle Aged
- Muscle, Skeletal
- Myotonic Dystrophy
- Myotonin-Protein Kinase
- Neurologic Examination
- Protein Kinases