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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Genome Var
Egile Nagusiak: Yahikozawa, Hiroyuki, Yoshida, Kunihiro, Sato, Shunichi, Hanyu, Norinao, Doi, Hiroshi, Miyatake, Satoko, Matsumoto, Naomichi
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2015
Gaiak:
Data Report
Sarrera elektronikoa: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
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