Article
A novel ATTR L32V mutation causes familial amyloid polyneuropathy in a Bolivian family.
Journal of the peripheral nervous system : JPNS - 1 Sept 2017
Martínez-Ulloa Pedro L, Vallejo Manuela, Corral Iñigo, García-Barragán Nuria, Alcazar Alberto, Martínez-Alonso Emma, Martínez-Poles Javier, Pian Hector, Jiménez-Escrig Adriano
Abstract excerpt
We report a new transthyretin (ATTR) gene c.272C>G mutation and variant protein, p.Leu32Val, in a kindred of Bolivian origin with a rapid progressive peripheral neuropathy and cardiomyopathy. Three individuals from a kindred with peripheral nerve and cardiac amyloidosis were examined. Analysis of the TTR gene was performed by Sanger direct sequencing. Neuropathologic examination was obtained on the index patient...
Topics
- Amyloid Neuropathies, Familial
- Bolivia
- DNA Mutational Analysis
- Family Health
- Female
- Humans
- Leucine
- Middle Aged
- Mutation
- Neural Conduction