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Spectrin mutations cause spinocerebellar ataxia type 5.
Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Dürr A, Zühlke C, Bürk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP. Ikeda Y, et al. Nat Genet. 2006 Feb;38(2):184-90. doi: 10.1038/ng1728. Epub 2006 Jan 22. Nat Genet. 2006. PMID: 16429157
The defect in Marfan syndrome.
McKusick VA. McKusick VA. Nature. 1991 Jul 25;352(6333):279-81. doi: 10.1038/352279a0. Nature. 1991. PMID: 1852198 No abstract available.