Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration.
McNeil, D E
Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration. [electronic resource] - Journal of medical genetics Jul 2002 - E37 p. digital
Publication Type: Case Reports; Letter
1468-6244
10.1136/jmg.39.7.e37 doi
Adult
Alleles
Ataxins
Central Nervous System Neoplasms--blood supply
Comorbidity
Diagnosis, Differential
Female
Humans
Ligases--genetics
Male
Middle Aged
Mutation--genetics
Nerve Tissue Proteins
Olivopontocerebellar Atrophies--diagnosis
Pedigree
Proteins--genetics
Spinocerebellar Degenerations--diagnosis
Trinucleotide Repeat Expansion--genetics
Tumor Suppressor Proteins
Ubiquitin-Protein Ligases
Vascular Neoplasms--diagnosis
Von Hippel-Lindau Tumor Suppressor Protein
von Hippel-Lindau Disease--diagnosis
Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration. [electronic resource] - Journal of medical genetics Jul 2002 - E37 p. digital
Publication Type: Case Reports; Letter
1468-6244
10.1136/jmg.39.7.e37 doi
Adult
Alleles
Ataxins
Central Nervous System Neoplasms--blood supply
Comorbidity
Diagnosis, Differential
Female
Humans
Ligases--genetics
Male
Middle Aged
Mutation--genetics
Nerve Tissue Proteins
Olivopontocerebellar Atrophies--diagnosis
Pedigree
Proteins--genetics
Spinocerebellar Degenerations--diagnosis
Trinucleotide Repeat Expansion--genetics
Tumor Suppressor Proteins
Ubiquitin-Protein Ligases
Vascular Neoplasms--diagnosis
Von Hippel-Lindau Tumor Suppressor Protein
von Hippel-Lindau Disease--diagnosis