Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene

Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare. We encountered a consanguineous family with two cases of late-onset cerebellar ataxia with neuropathy. We perfo...

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Bibliografiske detaljer

Hovedforfatter:	Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
Format:	Artigo
Sprog:	Inglês
Udgivet:	IMR Press 2020-03-01
Serier:	Journal of Integrative Neuroscience
Fag:	|autosomal recessive cerebellar ataxia|muscle atrophy|neuropathy|ataxia-telangiectasia mutated|splicing mutation|whole-exome sequencing
Online adgang:	https://jin.imrpress.com/fileup/1757-448X/PDF/1585708666931-774079272.pdf
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