phosphoglucomutase/asthenia

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[Electrophysiological evidence of impaired neuromuscular junction in a case of phosphoglucomutase 1 deficiency manifesting fluctuating muscle weakness].

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Prijava / prijava

A 27 year-old Canadian man suffered from fluctuating muscle weakness in the past several years. The patient had a past history of intestinal bleeding, bifid uvula and hypothyroidism in his childhood. Repetitive nerve stimulation tests showed a decrement pattern in the left deltoid muscle. The single

[Erratum: [Advance Publication] Electrophysiological evidence of impaired neuromuscular junction in a case of phosphoglucomutase 1 deficiency manifesting fluctuating muscle weakness].

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Prijava / prijava

Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.

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Prijava / prijava

Phosphoglucomutase 1 (PGM1, EC 5.4.2.2) plays a critical role in glucose homeostasis and is also essential for protein N-glycosylation. The main clinical manifestations of PGM1 deficiency (MIM 614921) reported in 19 patients from different ethnic backgrounds include the following: cleft

Increase in glucose 1,6-bisphosphate levels, activation of phosphofructokinase and phosphoglucomutase, and inhibition of glucose 1,6-bisphosphatase in muscle induced by trifluoperazine.

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Prijava / prijava

Injection of trifluoperazine (TFP) to rats induced a significant rise in the level of glucose 1,6-bisphosphate (Glc-1,6-P2) in muscle. This increase in Glc-1,6-P2, the potent activator of phosphofructokinase and phosphoglucomutase, was accompanied by a marked activation of both enzymes, when assayed

[A case of adult onset phosphoglucomutase deficiency].

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Prijava / prijava

A case of 38-year-old male with adult onset phosphoglucomutase (PGM) deficiency was reported. The patient was admitted at Kawamura Hospital (Gifu City) for evaluation of easy fatiguability and exercise-induced weakness of the extremities since he was 20 years old. Physical examination revealed

Exogenous ATP antagonizes the actions of phospholipase A2, local anesthetics, Ca2+ ionophore A23187, and lithium on glucose-1,6-bisphosphate levels and the activities of phosphofructokinase and phosphoglucomutase in rat muscle.

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Prijava / prijava

ATP, added externally to the incubation medium of rat diaphragm muscles, abolished the decrease in the levels of glucose-1,6-bisphosphate (Glc-1,6-P2), the powerful regulator of carbohydrate metabolism, induced by phospholipase A2, local anesthetics, Ca2+ ionophore A23187, or lithium. Concomitantly

New insights in the field of muscle glycogenoses.

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Prijava / prijava

OBJECTIVE This review highlights recent contributions regarding clinical heterogeneity, pathogenic mechanisms, therapeutic trials, and animal models of the muscle glycogenoses. RESULTS Most recent publications have dealt with the clinical effects of enzyme replacement therapy (ERT) in glycogenosis

Breeding of the gad-mdx mouse: influence of genetically induced denervation on dystrophic muscle fibers.

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Prijava / prijava

A new double mutant mouse strain, gad-mdx, was established. The transmission of mdx and gad genes was monitored by determining their chemical markers, creative kinase activity and phosphoglucomutase-1 isoenzyme, respectively, in blood samples. This new strain was characterized by high creatine

Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.

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Prijava / prijava

The congenital disorders of glycosylation are a group of clinically and biochemically heterogeneous diseases characterized by multisystem involvement due to glycosylation defect of protein and lipid. Here we report a 49-year-old man with exercise-induced fatigue and pain of muscle, tachypnea, cleft

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