Results 131 to 140 of about 2,907,636 (184)
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Muscle and Nerve, 1993
AbstractA 30‐year‐old man was referred for neurologic evaluation because of elevated creatine kinase. He had noted symptoms of proximal arm and distal leg weakness for several years, and, on examination, he had weakness in a scapuloperoneal distribution.
Richard J Barohn, Robert G Miller
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AbstractA 30‐year‐old man was referred for neurologic evaluation because of elevated creatine kinase. He had noted symptoms of proximal arm and distal leg weakness for several years, and, on examination, he had weakness in a scapuloperoneal distribution.
Richard J Barohn, Robert G Miller
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New England Journal of Medicine, 1972 Abstract A deficiency of acid maltase but not neutral maltase was observed in cultured fibroblasts obtained from six adults with glycogen-storage myopathy associated with acid maltase deficiency (A...
Angelini C., Engel A. G., Titus J. L.
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Immunocytochemistry of muscle cytoskeletal proteins in acid maltase deficiency
Muscle and Nerve, 1994AbstractImmunocytochemistry of dystrophin, spectrin, vinculin (sarcolemmaspecific proteins), and desmin (an intermediate filament protein) were investigated in 5 patients with acid maltase deficiency (AMD). One patient had infant onset, 2 had childhood onset, and 2 had adult onset.
Nereo Bresolin +2 more
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Muscle MRI in adult-onset acid maltase deficiency
Neuromuscular Disorders, 2004We report the spectrum of muscle involvement on magnetic resonance imaging in 11 patients with a molecularly confirmed diagnosis of adult-onset acid maltase deficiency at different clinical stages. Muscle magnetic resonance imaging showed a selective progressive pattern of muscle involvement with a constant involvement of the adductor magnus and ...
Giorgio Sandrini +2 more
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Effects of a high-protein diet in acid maltase deficiency
Journal of the Neurological Sciences, 1989The effects of a high-protein diet were studied in 5 adult cases of acid maltase deficiency. Measurements of muscle strength, pulmonary function and 3-methylhistidine excretion revealed no improvement consistently attributable to the diet.
Axel R Wintzen, A R Wintzen
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Identification of heterozygotes for glycogenosis 2 (Acid maltase deficiency)
Clinical Genetics, 1981In 21 obligate and 9 possible heterozygotes for acid maltase deficiency (AMD) (glycogenosis 2, Pompe's disease), different methods of identifying heterozygotes have been studied. Heterozygosity could not be demonstrated by physical examination, serum CPK assays, morphological examination of a muscle biopsy (including light‐microscopy, histochemistry ...
M F Niermeijer, R G Slee, J M Tager
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Frequent mutations in Japanese patients with acid maltase deficiency
Neuromuscular Disorders, 2000We screened 22 Japanese patients with acid maltase deficiency (seven with the infantile type, eight with the juvenile type and seven with the adult type) for three previously described mutations, D645E, S529V and R672Q, and a novel mutation, R600C. Although D645E has been reported to be common in Chinese patients with the infantile type, only three of ...
Yu-Ichi Goto +2 more
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Sleep Medicine, 2004 Acid maltase deficiency (AMD) is a rare autosomal recessive genetic disorder that results in an accumulation of glycogen in the lysosomal storage vacuoles.
Ryland P Byrd, Thomas M Roy
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Residual acid maltase activity in late‐onset acid maltase deficiency
Neurology, 1977Residual acid maltase activity was found by a sensitive fluorometric assay in muscle biopsies from 15 patients with late-onset acid maltase deficiency (mean, 6.91 percent; range, 2.4 to 12.2) but not in biopsy or autopsy muscle from three patients with the infantile form. Electrophoresis, kinetic characteristics, and subcellular fractionation indicated
M, Mehler, S, DiMauro
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