Article
Dominantly inherited ataxias.
Seminars in neurology - 1 Jan 1999
Subramony S H, Vig P J, McDaniel D O
Abstract excerpt
Molecular genetic studies in the past decade have demonstrated the enormous genetic heterogeneity among the dominantly inherited ataxias. Mutations at several distinct loci give rise to the progressive dominant ataxias and at least 2 different mutations cause episodic ataxias with dominant inheritance. The well-established genotypes for progressive dominant ataxias have all involved expansions of repeated CAG...
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