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Article

Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease.

Archives of neurology - 1 Jun 2006

Deschauer Marcus, Swalwell Helen, Strauss Maria, Zierz Stephan, Taylor Robert W

Abstract excerpt

BACKGROUND: An extensive range of molecular defects have been identified in the human mitochondrial genome (mitochondrial DNA); many are associated with well-characterized, progressive neurological syndromes, but a minority of patients have uncharacteristic phenotypes in which symptoms may be rel...

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Share to Electron Transport Complex IV
Share to Microscopy, Electron, Transmission
Share to Muscle, Skeletal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neuromuscular Diseases

Share to Phenylalanine

Share to RNA, Mitochondrial

Share to RNA, Transfer

Source

Identifiers

PMID: 16769874
DOI: 10.1001/archneur.63.6.902

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16769874-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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