Article
A heterozygous frameshift mutation of the PTEN/MMAC1 gene in a patient with Lhermitte-Duclos disease - only the mutated allele was expressed in the cerebellar tumor.
International journal of molecular medicine - 1 Jun 1998
Iida S, Tanaka Y, Fujii H, Hayashi S, Kimura M, Nagareda T, Moriwaki K
Abstract excerpt
Lhermitte-Duclos disease is a rare disorder of the cerebellum which exhibits a focally indolent growth of the cerebellar cortex. The disease is sometimes associated with multiple hamartoma syndrome, or Cowden disease, an autosomal, dominantly inherited cancer syndrome. Germline mutations of the P...
Topics
- Adolescent
- Alleles
- Base Sequence
- Cerebellar Neoplasms
- Cerebellum
- DNA Mutational Analysis
- DNA, Complementary
- DNA, Neoplasm
- Frameshift Mutation
- Ganglioneuroma
- Gene Expression Regulation, Neoplastic
- Heterozygote
- Humans
- Magnetic Resonance Imaging