Nicolina Sorensen

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We have identified 12 patients with autosomal recessive mitochondrial encephalomyopathy with elevated methylmalonic acid. The disorder has a high incidence of 1 in 1700 in the Faroe Islands due to a founder effect, and a carrier frequency of 1 in 33. The symptoms comprise hypotonia, muscle atrophy, hyperkinesia, severe hearing impairment and postnatal(More)
Although medulloblastoma (MB) represents the most frequent malignant brain tumour in children, the molecular pathogenesis of this tumour is still poorly understood. Microsatellite and RFLP studies have revealed allelic losses on the short arm of chromosome 17 in the region 17p13 in approximately 50% of MBs. A candidate for this putative MB suppressor on(More)
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