Article
Myoadenylate deaminase deficiency with progressive muscle weakness and atrophy caused by new missense mutations in AMPD1 gene: case report in a Japanese patient.
Neuromuscular disorders : NMD - 1 Oct 2000
Abe M, Higuchi I, Morisaki H, Morisaki T, Osame M
Abstract excerpt
A 46-year-old woman with exertional myalgia developed slowly progressive weakness in her lower extremities. She had slight muscle weakness in her facial and upper extremities, and severe muscle weakness and atrophy in lower extremities more marked in the proximal portions. Serum creatine kinase was slightly elevated. After ischemic forearm exercise test, blood ammonia had no elevation although lactate level...
Topics
- AMP Deaminase
- Alleles
- Amino Acid Substitution
- Biopsy
- Disease Progression
- Female
- Heterozygote
- Humans
- Japan
- Middle Aged
- Muscle, Skeletal
- Muscular Atrophy
- Mutation, Missense
- Paresis