Abstract
The clinical and biochemical findings are presented of two brothers suffering from McArdle's disease (myophosphorylase deficiency). Tissue enzyme estimations and lactate levels were done in affected and non affected members of the family. Affected members showed absence of phosphorylase enzyme by histochemical and quantitative estimation. No quantitative abnormalities were found in other enzyme systems of glycolytic pathways in the family investigated. Various other aspects of clinical features, biochemical abnormalities and inheritance are discussed.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 175-179 |
| Number of pages | 5 |
| Journal | Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques |
| Volume | 3 |
| Issue number | 3 |
| DOIs | |
| State | Published - Aug 1976 |
| Externally published | Yes |
ASJC Scopus subject areas
- Neurology
- Clinical Neurology
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Cite this
Mahmud, M. Z., Howell, R. R., Stevenson, R. E., & Gilroy, J. (1976). Myophosphorylase Deficiency (McArdle's Disease): Report of a Family. Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 3(3), 175-179. https://doi.org/10.1017/S0317167100025701