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Article

Clinical and Molecular Features of First Mexican Friedreich's Ataxia Patients with Compound Heterozygous FXN Mutations.

Neurology India - 1 Jan 2000

Boll Marie Catherine, Gasca-Saldaña Dianela, Mayén-Lobo Yerye Gibrán, Dávila-Ortiz de Montellano David José, Monroy-Jaramillo Nancy

Abstract excerpt

BACKGROUND: Friedreich's ataxia (FRDA) is caused by homozygous GAA repeat expansions or compound heterozygous (CH) mutations in FXN gene. Its broad clinical spectrum makes it difficult to identify, thus an accurate diagnosis can only be made by genetic testing. OBJECTIVE: This study aims to present data on FXN variants observed in patients with sporadic or recessive ataxia, including detailed data of the first CH...

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Identifiers

PMID: 34747814
DOI: 10.4103/0028-3886.329555

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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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Clinical and Molecular Features of First Mexican Friedreich's Ataxia Patients with Compound Heterozygous FXN Mutations.PMID 34747814Read ↗

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