Article
Multiple genotypes, multiple phenotypes, and partial defects.
Muscle & nerve - 1 Jan 2000
Kark R A, Becker D M
Abstract excerpt
In recent years, the following ideas have been expressed: (a) that all cases of a discrete, inherited neuromuscular syndrome should prove to be due to a single biochemical defect, (b) that any single biochemical defect should give rise only to one syndrome, and (c) that an enzymatic defect cannot...
Topics
- Anemia, Hemolytic, Congenital
- Arylsulfatases
- Female
- Genetic Variation
- Genotype
- Glucosephosphate Dehydrogenase Deficiency
- Glycogen Storage Disease Type V
- Humans
- Hyperlipoproteinemia Type II
- Male
- Models, Genetic
- Muscular Atrophy
- Neuromuscular Diseases
- Phenotype
- Porphyrias
- Pyruvate Kinase
- Tay-Sachs Disease