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 |
|---|---|
| Pages (from-to) | 175-179 |
| Number of pages | 5 |
| Journal | Canadian Journal of Neurological Sciences |
| Volume | 3 |
| Issue number | 3 |
| State | Published - Dec 1 1976 |
| Externally published | Yes |
Fingerprint
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
Cite this
Myophosphorylase deficiency (McArdle's disease) : report of a family. / Mahmud, M. Z.; Howell, R.; Stevenson, R. E.; Gilroy, J.
In: Canadian Journal of Neurological Sciences, Vol. 3, No. 3, 01.12.1976, p. 175-179.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Myophosphorylase deficiency (McArdle's disease)
T2 - report of a family
AU - Mahmud, M. Z.
AU - Howell, R.
AU - Stevenson, R. E.
AU - Gilroy, J.
PY - 1976/12/1
Y1 - 1976/12/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0017160761&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0017160761&partnerID=8YFLogxK
M3 - Article
VL - 3
SP - 175
EP - 179
JO - Canadian Journal of Neurological Sciences
JF - Canadian Journal of Neurological Sciences
SN - 0317-1671
IS - 3
ER -