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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
Brain, 09/03/09
Anheim M et al. – Pyramidal signs and dystonia were more frequent and disease was less severe with missense mutations in the helicase domain of senataxin gene than with missense mutations out of helicase domain and deletion and nonsense mutations. The lack of pyramidal signs in most patients may be explained by masking due to severe motor neuropathy.
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