PMC Links for OMIM (Select 232600) - PMC

Select item 10835571.

Myophosphorylase deficiency (McArdle's disease) in two interrelated families

P. Cochrane, R. R. Hughes, P. H. Buxton, R. A. Yorke

J Neurol Neurosurg Psychiatry. 1973 Apr; 36(2): 217–224. doi: 10.1136/jnnp.36.2.217

PMCID:: PMC1083557

Summary Page Browse PDF–1.3M

Select item 4417922.

CHRONIC PROGRESSIVE MYOPATHY WITH MYOGLOBINURIA: DEMONSTRATION OF A GLYCOGENOLYTIC DEFECT IN THE MUSCLE

Rudi Schmid, Robert Mahler

J Clin Invest. 1959 Nov; 38(11): 2044–2058. doi: 10.1172/JCI103983

Correction in:: J Clin Invest. 1960 Mar; 39(3): 500.

PMCID:: PMC441792

Summary Page Browse PDF–2.6M

Select item 4240403.

Molecular mechanisms of McArdle's disease (muscle glycogen phosphorylase deficiency). RNA and DNA analysis.

S Gautron, D Daegelen, F Mennecier, D Dubocq, A Kahn, J C Dreyfus

J Clin Invest. 1987 Jan; 79(1): 275–281. doi: 10.1172/JCI112794

PMCID:: PMC424040

Summary Page Browse PDF–1.6M

Select item 3705474.

McArdle's disease heterozygotes. Metabolic adaptation assessed using 31P-nuclear magnetic resonance.

R T Bogusky, R G Taylor, L J Anderson, K L Angelos, J S Lieberman, D A Walsh

J Clin Invest. 1986 Jun; 77(6): 1881–1887. doi: 10.1172/JCI112515

PMCID:: PMC370547

Summary Page Browse PDF–1.5M

Select item 3194225.

Phosphorylation of McArdle phosphorylase induces activity.

C G Cerri, J H Willner

Proc Natl Acad Sci U S A. 1981 May; 78(5): 2688–2692. doi: 10.1073/pnas.78.5.2688

PMCID:: PMC319422

Summary Page Browse PDF–1.2M

Select item 2883396.

Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency.

A Martinuzzi, L Vergani, R Carrozzo, M Fanin, L Bartoloni, C Angelini, V Askanas, W K Engel

J Clin Invest. 1993 Oct; 92(4): 1774–1780. doi: 10.1172/JCI116766

PMCID:: PMC288339

Summary Page Browse PDF–1.7M

Select item 2226387.

A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE

W. F. H. M. Mommaerts, Barbara Illingworth, Carl M. Pearson, R. J. Guillory, K. Seraydarian

Proc Natl Acad Sci U S A. 1959 Jun; 45(6): 791–797. doi: 10.1073/pnas.45.6.791

PMCID:: PMC222638

Summary Page Browse PDF–862K

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