Article
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
The Journal of clinical investigation - 15 Feb 1996
Bao Y, Kishnani P, Wu J Y, Chen Y T
Abstract excerpt
Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease resulting from deficient glycogen-branching enzyme (GBE) activity. The classic and most common form is progressive liver cirrhosis and failure leading to either liver transplantation or death by 5 yr of age. However, the...
Topics
- 1,4-alpha-Glucan Branching Enzyme
- Alleles
- Base Sequence
- Child, Preschool
- DNA Primers
- Female
- Gene Expression Regulation, Enzymologic
- Glycogen Storage Disease Type IV
- Humans
- Infant
- Liver Diseases
- Molecular Sequence Data
- Neuromuscular Diseases
- Point Mutation
- RNA, Messenger
- Sequence Deletion