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Article

A novel Refsum-like disorder that maps to chromosome 20.

Neurology - 6 Jan 2009

Fiskerstrand T, Knappskog P, Majewski J, Wanders R J, Boman H, Bindoff L A

Abstract excerpt

OBJECTIVE: Clinical and genetic characterization of a neurologic disorder resembling Refsum disease in a Norwegian consanguineous family. METHODS: The affected individuals comprise a brother and sister and their third cousin. The family comes from a small island community and genealogic studies showed that both sets of parents are descendants of a man born in 1585. Based on the hypothesis that this is an...

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Source

Identifiers

PMID: 19005174
DOI: 10.1212/01.wnl.0000333664.90605.23

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