Adult muscle phosphorylase 'b' kinase deficiency

J. M. Abarbanel; N. Bashan; R. Potashnik; A. Osimani; S. W. Moses; Y. Herishanu

doi:10.1212/WNL.36.4.560

Adult muscle phosphorylase 'b' kinase deficiency

J. M. Abarbanel, N. Bashan, R. Potashnik, A. Osimani, S. W. Moses, Y. Herishanu

Basic Sciences Divisions

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Abstract

A 35-year-old man had severe exercise intolerance and cramps. Venous blood lactate did not rise after ischemic exercise, and electromyographically silent contracture of hand muscle appeared. Histochemistry and electronmicroscopy of a muscle biopsy revealed subsarcolemmal and intermyofibrillar accumulation of glycogen. Biochemical studies showed moderately increased amount of glycogen. Total phosphorylase activity was normal, but the active form 'a' was 27% of normal. Phosphorylation kinase activity was 12% of the normal value and was normal in leukocytes and erythrocytes.

Original language	English
Pages (from-to)	560-562
Number of pages	3
Journal	Neurology
Volume	36
Issue number	4
DOIs	https://doi.org/10.1212/WNL.36.4.560
State	Published - 1 Jan 1986

ASJC Scopus subject areas

Clinical Neurology

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abstract = "A 35-year-old man had severe exercise intolerance and cramps. Venous blood lactate did not rise after ischemic exercise, and electromyographically silent contracture of hand muscle appeared. Histochemistry and electronmicroscopy of a muscle biopsy revealed subsarcolemmal and intermyofibrillar accumulation of glycogen. Biochemical studies showed moderately increased amount of glycogen. Total phosphorylase activity was normal, but the active form 'a' was 27% of normal. Phosphorylation kinase activity was 12% of the normal value and was normal in leukocytes and erythrocytes.",

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AU - Abarbanel, J. M.

AU - Bashan, N.

AU - Potashnik, R.

AU - Osimani, A.

AU - Moses, S. W.

AU - Herishanu, Y.

PY - 1986/1/1

Y1 - 1986/1/1

N2 - A 35-year-old man had severe exercise intolerance and cramps. Venous blood lactate did not rise after ischemic exercise, and electromyographically silent contracture of hand muscle appeared. Histochemistry and electronmicroscopy of a muscle biopsy revealed subsarcolemmal and intermyofibrillar accumulation of glycogen. Biochemical studies showed moderately increased amount of glycogen. Total phosphorylase activity was normal, but the active form 'a' was 27% of normal. Phosphorylation kinase activity was 12% of the normal value and was normal in leukocytes and erythrocytes.

AB - A 35-year-old man had severe exercise intolerance and cramps. Venous blood lactate did not rise after ischemic exercise, and electromyographically silent contracture of hand muscle appeared. Histochemistry and electronmicroscopy of a muscle biopsy revealed subsarcolemmal and intermyofibrillar accumulation of glycogen. Biochemical studies showed moderately increased amount of glycogen. Total phosphorylase activity was normal, but the active form 'a' was 27% of normal. Phosphorylation kinase activity was 12% of the normal value and was normal in leukocytes and erythrocytes.

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JO - Neurology

JF - Neurology

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ER -

Adult muscle phosphorylase 'b' kinase deficiency

Abstract

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