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pubmed-article:17013904pubmed:abstractTextThe phenotypic spectrum of PINK1-associated Parkinsonism was studied in a family with homozygous (n = 4) or heterozygous (n = 3) PINK1 mutations. All homozygous mutation carriers were definitely affected; the heterozygous carriers were asymptomatic but displayed unequivocal signs of probable or possible Parkinsonism. This finding suggests a role not only of homozygous but also of heterozygous PINK1 mutations in the development of parkinsonian signs and underlines the necessity to carefully investigate family members of affected mutation carriers.lld:pubmed
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pubmed-article:17013904pubmed:articleTitlePhenotypic spectrum of PINK1-associated parkinsonism in 15 mutation carriers from 1 family.lld:pubmed
pubmed-article:17013904pubmed:affiliationDepartment of Neurology, University of Lübeck, Lübeck, Germany.lld:pubmed
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