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Article

Heterogeneous phenotype in a family with compound heterozygous parkin gene mutations.

Archives of neurology - 1 Feb 2006

Deng Hao, Le Wei-Dong, Hunter Christine B, Ondo William G, Guo Yi, Xie Wen-Jie, Jankovic Joseph

Abstract excerpt

BACKGROUND: Mutations in the parkin gene (PRKN) cause autosomal recessive early-onset Parkinson disease (EOPD). OBJECTIVE: To investigate the presence of mutations in the PRKN gene in a white family with EOPD and the genotype-phenotype correlations. DESIGN: Twenty members belonging to 3 generations of the EOPD family with 4 affected subjects underwent genetic analysis. Direct genomic DNA sequencing,...

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Source

Identifiers

PMID: 16476817
DOI: 10.1001/archneur.63.2.273

Genes

PRKN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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