Muscle phosphorylase b kinase deficiency revisited.

Muscle phosphorylase b kinase (PHK) deficiency (glycogenosis type VIII) is a rare disorder caused by mutations in the PHKA1 gene encoding the alpha(M) subunit of PHK. Only 5 patients with molecular defects in the X-linked PHKA1 gene have been described until now, and they all presented with exercise intolerance. Here, we report a patient with a new mutation in the PHKA1 gene who presented with PHK deficiency, cognitive impairment, but no overt myopathy. This report supports the concept that PHK deficiency is a mild metabolic myopathy and suggests that PHK mutations may interfere with normal brain function. Copyright 2009 Elsevier B.V. All rights reserved.

Citation

Andoni Echaniz-Laguna, Hasan O Akman, Michel Mohr, Christine Tranchant, Violaine Talmant-Verbist, Marie-Odile Rolland, Salvatore Dimauro. Muscle phosphorylase b kinase deficiency revisited. Neuromuscular disorders : NMD. 2010 Feb;20(2):125-7

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PMID: 20080404

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