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Article

Pseudo-heterozygous rearrangement mutation of parkin.

Movement disorders : official journal of the Movement Disorder Society - 1 Apr 2012

Funayama Manabu, Yoshino Hiroyo, Li Yuanzhe, Kusaka Hiromichi, Tomiyama Hiroyuki, Hattori Nobutaka

Abstract excerpt

BACKGROUND: Mutations in parkin are the most frequent cause of autosomal recessive parkinsonism. Quantitative PCR is used to detect parkin rearrangements. However, the method has an inherent problem-deletion and duplication in the same allelic exon could be determined as normal. To present this misidentification, we report a family with compound heterozygous rearrangements in parkin. METHODS: A patient with...

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PMID: 22308057
DOI: 10.1002/mds.24906

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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