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Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia

The SCA6 mutation, a small expansion of a CAG repeat in a calcium channel gene CACNA1A, was identified in three pedigrees. Point mutations in other parts of the gene CACNA1A were excluded and new clinical features of SCA6 reported—namely, central positional nystagmus and episodic ataxia responsive t...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Jen, J., Yue, Q., Karrim, J., Nelson, S., Baloh, R.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BMJ Group 1998
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC2170265/
https://ncbi.nlm.nih.gov/pubmed/9771787
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