Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study.

Motozaki, Yuko

Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: a clinicopathologic study. [electronic resource] - Journal of the neurological sciences Sep 2007 - 236-9 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0022-510X

10.1016/j.jns.2007.03.021 doi


Adult
Amyloid Neuropathies, Familial--complications
Brain--metabolism
Carpal Tunnel Syndrome--genetics
DNA Mutational Analysis
Eye Diseases, Hereditary--genetics
Fatal Outcome
Female
Genetic Predisposition to Disease--genetics
Genetic Testing
Genotype
Humans
Male
Meninges--metabolism
Middle Aged
Mutation--genetics
Myocardium--metabolism
Pedigree
Peripheral Nerves--metabolism
Phenotype
Prealbumin--genetics
Viscera--metabolism
Vitreous Body--pathology