mcardle disease 是什么意思，中文意思 | 麦卡德尔病英文怎么说医学英语中英文词汇翻译

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Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern

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 ...

Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease)

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

Cognitive impairment and McArdle disease: Is there a link?

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

Myophosphorylase deficiency (McArdle disease) in a patient with normal pregnancy and normal pregnancy outcome

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. ...

Diagnosis of Bruns-Garland syndrome in a patient with McArdle disease and type 2 diabetes mellitus

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 ...
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Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern

Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease)

Cognitive impairment and McArdle disease: Is there a link?

Myophosphorylase deficiency (McArdle disease) in a patient with normal pregnancy and normal pregnancy outcome

Diagnosis of Bruns-Garland syndrome in a patient with McArdle disease and type 2 diabetes mellitus