Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.
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E. Shoubridge | B. Brais | K. Boycott | M. Tétreault | J. Majewski | R. La Piana | Karine Choquet | M. Dicaire | Sharon X. C. Yang | K. Choquet | Olga Zurita-Rendón | M. Tetreault