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Article

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

Human genetics - 1 Sept 2015

Tetreault Martine, Fahiminiya Somayyeh, Antonicka Hana, Mitchell Grant A, Geraghty Michael T, Lines Matthew, Boycott Kym M, Shoubridge Eric A, Mitchell John J, Michaud Jacques L, Majewski Jacek

Abstract excerpt

Leigh syndrome (LS) is a rare heterogeneous progressive neurodegenerative disorder usually presenting in infancy or early childhood. Clinical presentation is variable and includes psychomotor delay or regression, acute neurological or acidotic episodes, hypotonia, ataxia, spasticity, movement disorders, and corresponding anomalies of the basal ganglia and brain stem on magnetic resonance imaging. To date, 35...

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Source

Identifiers

PMID: 26099313
DOI: 10.1007/s00439-015-1577-y

Genes

ECHS1
HIBCH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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