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Article

Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients.

Mitochondrion - 1 Nov 2015

Singh Inder, Faruq Mohammed, Padma Madakasira Vasantha, Goyal Vinay, Behari Madhuri, Grover Ashoo, Mukerji Mitali, Srivastava Achal K

Abstract excerpt

OBJECTIVE: The loss of function mutations (biallelic) in frataxin (FXN) has primarily been implicated in Friedreich's ataxia (FRDA), an autosomal recessive cerebellar ataxia. The protein product of FXN is a nuclear-encoded mitochondrial protein required for the biogenesis of iron- clusters (Fe-S). FRDA is characterized by neurological and non-neurological features which show variable expression in affected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26321457
DOI: 10.1016/j.mito.2015.08.003

Genes

FXN
GAA

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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