Article
Minimal expression of myotonic dystrophy: a clinical and molecular analysis.
Journal of medical genetics - 1 Nov 1992
Reardon W, Harley H G, Brook J D, Rundle S A, Crow S, Harper P S, Shaw D J
Abstract excerpt
A clinical and molecular study is reported of 83 patients considered to be minimally affected with myotonic dystrophy (DM). These had been identified in three ways: 60 subjects were identified on clinical grounds and were divided into those with and those without neuromuscular involvement (groups...
Topics
- Adult
- Alleles
- Base Sequence
- Cataract
- DNA
- DNA Mutational Analysis
- Diagnostic Errors
- Electromyography
- Female
- Gene Expression
- Humans
- Male
- Molecular Sequence Data
- Myotonic Dystrophy
- Phenotype
- Polymerase Chain Reaction
- Repetitive Sequences, Nucleic Acid