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jtitle_s:("Acta mol")
1.  Neuromuscular forms of glycogen branching enzyme deficiency 
Acta Myologica  2007;26(1):75-78.
Deficiency of glycogen branching enzyme is causative of Glycogen Storage Disease type IV (GSD-IV), a rare autosomal recessive disorder of the glycogen synthesis, characterized by the accumulation of amylopectin-like polysaccharide, also known as polyglucosan, in almost all tissues. Its clinical presentation is variable and involves the liver or the neuromuscular system and different mutations in the GBE1 gene, located on chromosome 3, have been identified in both phenotypes. This review will addresses the neuromuscular clinical variants, focusing on the molecular genetics aspects of this disorder.
PMCID: PMC2949312  PMID: 17915577
Glycogen storage disease; branching enzyme; GBE1 gene; metabolic myopathy
2.  Muscle glycogenoses: an overview 
Acta Myologica  2007;26(1):35-41.
PMCID: PMC2949320  PMID: 17915567
3.  LAMP-2 deficiency (Danon disease) 
Acta Myologica  2007;26(1):79-82.
PMCID: PMC2949328  PMID: 17915578

Results 1-3 (3)