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Amyotroph Lateral Scler. 2011 May;12(3):228-30. doi: 10.3109/17482968.2011.566930. Epub 2011 Mar 28.

Mutation in the senataxin gene found in a patient affected by familial ALS with juvenile onset and slow progression.

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1
Department of Laboratory Medicine, Medical Genetics, Milan, Italy.

Abstract

We report an Italian male with juvenile onset familial disease characterized by progressive weakness and wasting of four limbs and prolonged survival. Diagnostic work-up revealed the diffuse involvement of central and peripheral motor neurons. Genetic analysis revealed a L389S mutation in the senataxin (SETX) gene.

PMID:
21438761
DOI:
10.3109/17482968.2011.566930
[Indexed for MEDLINE]
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