Article
[Autosomal recessive oculopharyngeal "muscular dystrophy"--clinical features and association with reduced activity of myophosphorylase].
Rinsho shinkeigaku = Clinical neurology - 1 Apr 1991
Nishimura M, Miyamoto K, Motoyoshi Y, Sugie H, Tanabe H
Abstract excerpt
We reported two cases of brothers demonstrating oculopharyngeal muscular dystrophy (OPMD). The cases had consanguineous parents and five healthy siblings, which suggested the autosomal recessive inheritance. The initial symptom was slowly progressive blepharoptosis with onset in the third decade....
Topics
- Blepharoptosis
- Genes, Recessive
- Genetic Variation
- Glycogen Storage Disease Type V
- Humans
- Male
- Middle Aged
- Muscles
- Muscular Dystrophies
- Ophthalmoplegia
- Phenotype
- Phosphorylases