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  • Title: Intrafamilial variability in Machado-Joseph disease.
    Author: Subramony SH, Currier RD.
    Journal: Mov Disord; 1996 Nov; 11(6):741-3. PubMed ID: 8914106.
    Abstract:
    Dominantly inherited ataxias resulting from different gene mutations are difficult to distinguish based on clinical phenotypes. We believe the phenotypic variability within families can be a clue to clinical diagnosis. We illustrate the range of phenotypes extending from levodopa-responsive extrapyramidal disease to more purely ataxic syndromes seen in two families with molecularly proven Machado-Joseph disease.
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