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Article

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families.

Scientific reports - 28 Jan 2026

Aslam Faiza, Wajid Muhammad, Butt Amina Iftikhar, Wohler Elizabeth, Seo Go Hun, Ji Weizhen, Lakhani Saquib A, Sobreira Nara, Naz Sadaf

Abstract excerpt

Autosomal recessive ataxia is characterized primarily by gait and balance problems. Peripheral neuropathy, which affects peripheral nervous system is manifested as sensory loss, pain, numbness and/or burning sensation accompanied by distal muscle atrophy which can cause limb deformities. We recruited seven consanguineous families having symptoms of peripheral neuropathy or ataxia for the identification of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41606223
DOI: 10.1038/s41598-026-37808-0
PMCID: PMC12910025

Genes

GDAP1
AFG3L2
ALS2
MFSD8
MMACHC
SETX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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