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Article

Homozygous c.359del variant in MGME1 is associated with early onset cerebellar ataxia.

European journal of medical genetics - 1 Oct 2017

Hebbar Malavika, Girisha Katta M, Srivastava Anshika, Bielas Stephanie, Shukla Anju

Abstract excerpt

We ascertained a child with early onset cerebellar ataxia and identified a novel frameshift deletion, c.359del [p. (Pro120Leufs*2), NM_052865.2] in exon 2 of MGME1 (mitochondrial genome maintenance exonuclease 1) by exome sequencing. Variations in MGME1 have been reported to cause mitochondrial DNA (mtDNA) depletion syndrome 11 (MIM #615084) in an earlier work. The phenotype included progressive external...

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Identifiers

PMID: 28711739
DOI: 10.1016/j.ejmg.2017.07.010
PMCID: PMC6379073

Genes

MGME1

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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