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Phenotypic continuum in neuronopathic gaucher disease: an intermediate phenotype between type 2 and type 3

✍ Scribed by Ozlem Goker-Alpan; Raphael Schiffmann; Joseph K Park; Barbara K Stubblefield; Nahid Tayebi; Ellen Sidransky


Book ID
117849839
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
143 KB
Volume
143
Category
Article
ISSN
1097-6833

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## Abstract We report a 67 years old female patient out of a multigenerational family with spinocerebellar ataxia type 2 (SCA2) with an unusually benign course of disease. Although all SCA2 gene carriers have by now developed the predominant gait ataxia and brainstem oculomotor dysfunction, the ind