Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)

We report a Japanese family with spastic paraplegia 7 (SPG7) that carries a deleterious homozygous p.R398X mutation in SPG7. The patients showed a predominant cerebellar ataxia phenotype. SPG7 is quite rare in Japan, but it should be included in the differential diagnosis for hereditary spastic-atax...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Hum Genome Var
Main Authors: Yahikozawa, Hiroyuki, Yoshida, Kunihiro, Sato, Shunichi, Hanyu, Norinao, Doi, Hiroshi, Miyatake, Satoko, Matsumoto, Naomichi
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2015
Teme:
Data Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785587/
https://ncbi.nlm.nih.gov/pubmed/27081526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.12
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki