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Springer Publishing Company

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Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients

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Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance

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A mutation in the RNF170 gene causes autosomal dominant sensory ataxia

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A novel autosomal recessive myopathy with external ophthalmoplegia linked to chromosome 17p13.1-p12

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