New mutation in the non-gigantic exon of SACS in Japanese siblings.

Subjects

Subjects :

Adult
Amino Acid Substitution genetics
Atrophy
Cerebellum pathology
Consanguinity
Female
Gait Ataxia diagnosis
Homozygote
Humans
Leucine genetics
Male
Middle Aged
Phenylalanine genetics
Sequence Analysis, DNA
Siblings
Chromosome Aberrations
Exons genetics
Gait Ataxia genetics
Genes, Recessive
Heat-Shock Proteins genetics
Mutation genetics

Details

Language :

English

ISSN :

0885-3185

Volume :

22

Issue :

5

Database :

MEDLINE

Journal :

Movement disorders : official journal of the Movement Disorder Society

Publication Type :

Report

Accession number :

17290461

Full Text :

https://doi.org/10.1002/mds.21365