Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy.

Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2004

Brown Michael D, Hosseini Seyed, Steiner Israel, Wallace Douglas C, Korn-Lubetzki Isabelle

Abstract excerpt

The combination of optic atrophy and dystonia has been etiologically associated with mitochondrial DNA (mtDNA) mutations. We report here on the complete mtDNA sequence from the proband of a consanguineous family exhibiting "mitochondrial-like" optic atrophy and dystonia. A candidate tRNA(Gly) mutation was identified that was unique to the family. However, the mutation was homoplasmic in both affected and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Caudate Nucleus
Share to Dystonic Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Functional Laterality

Share to Mitochondrial Myopathies

Share to Optic Atrophy

Share to Optic Atrophy, Hereditary, Leber

Share to Putamen

Share to Sex Chromosome Aberrations

Source

Identifiers

PMID: 14978686
DOI: 10.1002/mds.10646

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Complete mitochondrial DNA sequence analysis in a family with early-onset dystonia and optic atrophy.PMID 14978686Read ↗

A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.Semantic proximity Read ↗

A novel mutation in the mitochondrial DNA tRNA Leu (UUR) gene associated with late-onset ocular myopathy.Semantic proximity Read ↗

The m.3244G>A mutation in mtDNA is another cause of progressive external ophthalmoplegia.Semantic proximity Read ↗

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.Semantic proximity Read ↗

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.Semantic proximity Read ↗

A novel mutation in the mitochondrial tRNA(Ala) gene (m.5636T>C) in a patient with progressive external ophthalmoplegia.Semantic proximity Read ↗

Late-onset mitochondrial myopathy with dystrophic changes due to a G7497A mutation in the mitochondrial tRNA(Ser(UCN)) gene.Semantic proximity Read ↗

A novel mitochondrial tRNA(Val) T1658C mutation identified in a CPEO family.Semantic proximity Read ↗

Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene.Semantic proximity Read ↗

Homoplasmy, heteroplasmy, and mitochondrial dystonia.Semantic proximity Read ↗

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.Semantic proximity Read ↗

A novel mutation in the mitochondrial tRNA Asn gene associated with a lethal disease.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.