Y Wu, JL Weber, GD Vladutiu… - Molecular Genetics and …, 2011 - Elsevier McArdle disease is an autosomal recessive glycogenosis due to deficiency of the enzyme myophosphorylase. It results from homozygous or compound heterozygous mutations in the gene for this enzyme, PYGM. We report six novel mutations in the PYGM gene based ...
F Miteff, HC Potter, J Allen, H Teoh… - Journal of Clinical …, 2011 - Elsevier Mutations of PYGM, the gene encoding human myophosphorylase, produce a metabolic myopathy characterised by exercise intolerance and, in some patients, myoglobinuria. To illustrate the clinical and laboratory features of myophosphorylase deficiency, we describe 10 patients ... Related articles - All 2 versions
M Mancuso, D Orsucci, D Volterrani… - Neuromuscular Disorders, 2011 - Elsevier McArdle disease is caused by deficiency of myophosphorylase, the muscle isoform of glycogen phosphorylase. This isoform is also expressed in astrocytes, where it seems to have a key role in neural energy metabolism. Whereas in other glycogen storage diseases cognitive ... Related articles - All 3 versions
W Giles… - Obstetric Medicine, 2011 - obmed.rsmjournals.com McArdle disease is a rare, mostly autosomal recessive disorder of deficient myophosphorylation of glycogen in skeletal muscles. Recent knowledge regarding this condition means that women of childbearing age with McArdle disease can expect to labour normally without ill effect. ...
R Martins, C Neves, M Vaz-da-Silva… - Endocrine …, 2011 - endocrine-abstracts.org Clinical case: A 69-year-old caucasian male with previous medical history of insulin-treated type 2 diabetes mellitus (diagnosed 30 years before), McArdle disease (diagnosed 15 years before, by muscle biopsy) and colon carcinoma (6 years before, treated with surgery and ... Cached
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