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Article

Novel mitochondrial tRNA Leu(CUN) transition and D4Z4 partial deletion in a patient with a facioscapulohumeral phenotype.

Neuromuscular disorders : NMD - 1 Mar 2008

Filosto Massimiliano, Tonin Paola, Scarpelli Mauro, Savio Chiara, Greco Francesca, Mancuso Michelangelo, Vattemi Gaetano, Govoni Vittorio, Rizzuto Nicolò, Tupler Rossella, Tomelleri Giuliano

Abstract excerpt

Point mutations in mtDNA-encoded tRNA genes frequently cause isolated myopathies but rarely cause the facioscapulohumeral phenotype. We report on a patient affected with chronic progressive weakness of facioscapulohumeral/peroneal muscles whose muscle biopsy showed a mitochondrial myopathy. mtDNA direct sequencing and RFLP analysis revealed a heteroplasmic transition T12313C which disrupts a conserved site in the...

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Share to Biopsy
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Deletion

Share to Muscle, Skeletal

Share to Muscular Dystrophy, Facioscapulohumeral

Share to Nucleic Acid Conformation

Share to Polymorphism, Restriction Fragment Length

Share to RNA, Transfer, Leu

Source

Identifiers

PMID: 18343111
DOI: 10.1016/j.nmd.2007.12.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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