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Article

A Novel Homozygous p.L539F Mutation Identified in PINK1 Gene in a Moroccan Patient with Parkinsonism.

BioMed research international - 1 Jan 2016

Ben El Haj Rafiqua, Regragui Wafaa, Tazi-Ahnini Rachid, Skalli Asmae, Bouslam Naima, Benomar Ali, Yahyaoui Mohamed, Bouhouche Ahmed

Abstract excerpt

Parkinson's disease (PD) is the second most common neurodegenerative disorder after Alzheimer's disease. Ten of fifteen causative genes linked to familial forms of PD have been reported to cause autosomal recessive forms. Among them, mutations in the PTEN-induced kinase 1 (PINK1) gene were shown to be responsible for a phenotype characterized by early onset, good response to levodopa, and a benign course. Using...

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Identifiers

PMID: 27413743
DOI: 10.1155/2016/3460234
PMCID: PMC4931068

Genes

PINK1
PTEN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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