Document Detail


Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII).
MedLine Citation:
PMID:  22133655     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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 25years disease history, high CK levels, hypertrophic cardiomyopathy with paroxysmal atrial fibrillation without fixed muscle weakness.
Authors:
Olimpia Musumeci; Claudio Bruno; Tiziana Mongini; Carmelo Rodolico; M'hammed Aguennouz; Emanuele Barca; Angela Amati; Denise Cassandrini; Luigi Serlenga; Giuseppe Vita; Antonio Toscano
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-11-29
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  -     ISSN:  1873-2364     ISO Abbreviation:  -     Publication Date:  2011 Nov 
Date Detail:
Created Date:  2011-12-2     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Elsevier B.V. All rights reserved.
Affiliation:
Department of Neurosciences, Psychiatry and Anaesthesiology University of Messina, Italy.
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