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Article

PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism.

Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2017

Khodadadi Hamidreza, Azcona Luis J, Aghamollaii Vajiheh, Omrani Mir Davood, Garshasbi Masoud, Taghavi Shaghayegh, Tafakhori Abbas, Shahidi Gholam Ali, Jamshidi Javad, Darvish Hossein, Paisán-Ruiz Coro

Abstract excerpt

INTRODUCTION: Atypical parkinsonism is a neurodegenerative disease that includes diverse neurological and psychiatric manifestations. OBJECTIVES: We aimed to identify the disease-cauisng mutations in a consanguineous family featuring intellectual disability and parkinsonism. METHODS: Full phenotypic characterization, followed by genome-wide single-nucleotide polymorphism genotyping and whole-genome sequencing,...

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Source

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Identifiers

PMID: 27753167
DOI: 10.1002/mds.26824
PMCID: PMC5318269

Genes

PTRHD1

Variants

Provenance

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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