Creatine and CMT (1977 article)

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Clin Chim Acta. 1977 Sep 1;79(2):379-85. MENTIONS CMT and CREATINE.

5'-AMP aminohydrolase activity in erythrocytes from normal and

dystrophic individuals.

JC, Suelter CH, Puite RH.

5'-AMP aminohydrolase activities in red blood cells from normal human

adults and from patients with pseudohypertrophic dystrophy, myotonic

dystrophy, limb girdle dystrophy, neuromuscular atrophy, Charcot-

Marie Tooth Disease, and spinal muscular atrophy were examined.

In contrast to the greatly decreased skeletal muscular levels of 5'-

AMP aminohydrolase observed in Pseudohypertrophic muscular dystrophy,

levels in red blood cells of all patients were not significantly

different from normals. Pyruvate kinase and creatine kinase

activities were determined for comparative purposes. The density

distribution of normal and dystrophic erythrocytes were essentially

identical.