Article
Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene.
The International journal of neuroscience - 1 Jan 2015
Shaibani Aziz, Wong Lee-Jun, Wei Zhang Victor, Lewis Richard Alan, Shinawi Marwan
Abstract excerpt
Posterior column ataxia with retinitis pigmentosa (PCARP) is an autosomal recessive disorder characterized by severe sensory ataxia, muscle weakness and atrophy, and progressive pigmentary retinopathy. Recently, mutations in the FLVCR1 gene were described in four families with this condition. We investigated the molecular basis and studied the phenotype of PCARP in a new family. The proband is a 33-year-old woman...
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