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Article

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.

Human genetics - 1 Mar 2012

Marti-Masso Jose Felix, Ruiz-Martínez Javier, Makarov Vladimir, López de Munain Adolfo, Gorostidi Ana, Bergareche Alberto, Yoon Seungtai, Buxbaum Joseph D, Paisán-Ruiz Coro

Abstract excerpt

Dystonias are a clinically and genetically heterogeneous group of movement disorders characterized by involuntary, sustained muscular contractions affecting one or more sites of the body, and abnormal postures. In this study, we describe an autosomal recessive family that presents with a progressive and early-onset form of generalized dystonia. The nuclear family consists of two healthy parents and two affected...

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Source

Identifiers

PMID: 21912879
DOI: 10.1007/s00439-011-1086-6

Genes

GCDH

Variants

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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