Muscle phosphorylase b kinase deficiency revisited

作者：Echaniz Laguna Andoni^*; Akman Hasan O; Mohr Michel; Tranchant Christine; Talmant Verbist Violaine; Rolland Marie Odile; Dimauro Salvatore

来源：Neuromuscular Disorders, 2010, 20(2): 125-127.

DOI：10.1016/j.nmd.2009.11.004

• Muscle glycogenosis
• Phosphorylase b kinase
• Mental retardation
• Myopathy

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 rnyopathy and suggests that PHK mutations may interfere with normal brain function.

• 出版日期2010-2