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Article

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

Biochemical and biophysical research communications - 2 Jun 2018

Cardaioli Elena, Mignarri Andrea, Cantisani Teresa Anna, Malandrini Alessandro, Nesti Claudia, Rubegni Anna, Funel Niccola, Federico Antonio, Santorelli Filippo Maria, Dotti Maria Teresa

Abstract excerpt

We sequenced the mitochondrial genome from a 40-year-old woman with myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications. Histological and biochemical features of mitochondrial respiratory chain dysfunction were present. Direct sequencing showed a novel heteroplasmic mutation at nucleotide 5513 in the MT-TW gene that encodes tRNATrp. Restriction Fragment Length Polymorphism...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

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Share to Sequence Analysis, DNA

Share to Tomography, X-Ray Computed

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Source

Identifiers

PMID: 29625105
DOI: 10.1016/j.bbrc.2018.04.009

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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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