Neuromuscular forms of glycogen branching enzyme deficiency.
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.
Bruno
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C
Muscular and Neurodegenerative Disease Unit, University of Genova, Istituto Giannina Gaslini, Genova, Italy. claudiobruno@ospedale-gaslini.ge.it
Cassandrini
D
D
Assereto
S
S
Akman
H Orhan
HO
Minetti
C
C
Di Mauro
S
S
D015061:1,4-alpha-Glucan Branching Enzyme / Q000172:deficiency*; D019943:Amino Acid Substitution; D000818:Animals; D002893:Chromosomes, Human, Pair 3; D004195:Disease Models, Animal; D005838:Genotype; D006011:Glycogen Storage Disease Type IV / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D009154:Mutation; D009468:Neuromuscular Diseases / Q000201:enzymology* / Q000235:genetics; D020641:Polymorphism, Single Nucleotide
D015061:1,4-alpha-Glucan Branching Enzyme