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1. Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family.

Author

Casali C, Fabrizi GM, Santorelli FM, Colazza G, Villanova M, Dotti MT, Cavallaro T, Cardaioli E, Battisti C, Manneschi L, DiGennaro GC, Fortini D, Spadaro M, Morocutti C, and Federico A

Subjects
Adult, Female, Humans, Italy, Male, Middle Aged, Pedigree, Phenotype, Cerebellar Ataxia genetics, DNA, Mitochondrial genetics, Lipoma genetics, Mutation, Skin Neoplasms genetics
Published
1999
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