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Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).

Abstract
Muscle phosphofructokinase (PFKM) deficiency, a rare disorder of glycogen metabolism also known as glycogen storage disease type VII (GSDVII), is characterized by exercise intolerance, myalgias, cramps and episodic myoglobinuria associated with compensated hemolytic anaemia and hyperuricemia. We studied five patients with PFKM deficiency coming from different Italian regions. All probands showed exercise intolerance, hyperCKemia, cramps and myoglobinuria. One patient had a mild hypertrophic cardiomyopathy. Biochemical studies revealed residual PFK activity ranging from 1 to 5%. Molecular genetic analysis identified four novel mutations in the PFKM gene. In our series of patients, clinical and laboratory features were similar in all but one patient, who had an unusual phenotype characterized by 25 ears disease history, high CK levels, hypertrophic cardiomyopathy with paroxysmal atrial fibrillation without fixed muscle weakness.
AuthorsOlimpia Musumeci, Claudio Bruno, Tiziana Mongini, Carmelo Rodolico, M'hammed Aguennouz, Emanuele Barca, Angela Amati, Denise Cassandrini, Luigi Serlenga, Giuseppe Vita, Antonio Toscano
JournalNeuromuscular disorders : NMD (Neuromuscul Disord) Vol. 22 Issue 4 Pg. 325-30 (Apr 2012) ISSN: 1873-2364 [Electronic] England
PMID22133655 (Publication Type: Journal Article)
CopyrightCopyright © 2011 Elsevier B.V. All rights reserved.
Topics
  • Adolescent
  • Adult
  • Cardiomyopathy, Hypertrophic (complications)
  • Child
  • Female
  • Genetic Association Studies
  • Glycogen Storage Disease Type VII (complications, diagnosis, genetics)
  • Humans
  • Hyperuricemia (complications)
  • Male
  • Middle Aged
  • Mutation (genetics)
  • Myoglobinuria (complications)
  • Phenotype

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