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Article

Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

Neurology - 24 Jan 2012

Preisler N, Orngreen M C, Echaniz-Laguna A, Laforet P, Lonsdorfer-Wolf E, Doutreleau S, Geny B, Akman H O, Dimauro S, Vissing J

Abstract excerpt

OBJECTIVE: To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD). METHODS: Patient 1 (39 years old) had mild exercise-induced forearm pain, and EMG showed a myopathic pattern. Patient 2 (69 years old) had raised levels of creatine kinase (CK) for more than 6 months after statin...

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PMID: 22238410
DOI: 10.1212/WNL.0b013e31824365f9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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