A novel compound heterozygous mutation of C20orf54 gene associated with Brown-Vialetto-Van Laere syndrome in an Italian family

Eur J Neurol. 2013 Jul;20(7):e94-5. doi: 10.1111/ene.12163.

Authors

M Bandettini di Poggio, S Gagliardi, M Pardini, E Marchioni, M Monti Bragadin, L Reni, L Doria-Lamba, L Roccatagliata, M Ceroni, A Schenone, C Cereda

PMID: 23750839
DOI: 10.1111/ene.12163

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Amino Acid Sequence
Bulbar Palsy, Progressive / genetics*
Female
Genetic Predisposition to Disease / genetics*
Hearing Loss, Sensorineural / genetics*
Heterozygote
Humans
Italy
Male
Membrane Transport Proteins / genetics*
Molecular Sequence Data
Mutation
Pedigree

Substances

Membrane Transport Proteins
SLC52A3 protein, human

Supplementary concepts

Brown-Vialetto-Van Laere syndrome