Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.
The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1 , the gene encoding glycogen branching enzyme. We report two novel truncating mutations, as well as the first genomic mutational analysis of GBE1 using denaturing high performance liquid chromatography.
Janecke
Andreas R
AR
Department of Medical Biology and Human Genetics, Innsbruck Medical University, Austria. Andreas.Janecke@uibk.ac.at
Dertinger
Susanne
S
Ketelsen
Uwe-Peter
UP
Bereuter
Lothar
L
Simma
Burkhard
B
Müller
Thomas
T
Vogel
Wolfgang
W
Offner
Felix A
FA
D015061:1,4-alpha-Glucan Branching Enzyme / Q000235:genetics*; D005260:Female; D006011:Glycogen Storage Disease Type IV / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D008107:Liver Diseases / Q000209:etiology; D018482:Muscle, Skeletal / Q000473:pathology / Q000648:ultrastructure; D009154:Mutation; D009468:Neuromuscular Diseases / Q000209:etiology
D015061:1,4-alpha-Glucan Branching Enzyme