The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene.

E Keilland, C A Rupar, Asuri N Prasad, K Y Tay, A Downie, C Prasad

Open access · goldAbstract readCase Reports

In one paragraph

Article in Molecular genetics and metabolism reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it

0cells of the map it votes in

9citing papers in PubMed

0.7field-weighted citation impact, top 27% of its field

1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

9 citing papers in PubMed, 14 citations in OpenAlex.

Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
Review
Progressive external ophthalmoplegia.Handbook of clinical neurology · 2023
Review
Mito-FUNCAT-FACS reveals cellular heterogeneity in mitochondrial translation.RNA (New York, N.Y.) · 2022
Article
Mutational Analysis and mtDNA Haplogroup Characterization in Three Serbian Cases of Mitochondrial Encephalomyopathies and Literature Review.Diagnostics (Basel, Switzerland) · 2021
Article
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.European journal of human genetics : EJHG · 2021
Article
Monitoring mammalian mitochondrial translation with MitoRiboSeq.Nature protocols · 2021
Article
Response to: Letter to the Editor Regarding: The Expanding Phenotype of MELAS Caused by the m.3291 T > C tRNA Mutation E Kelland, C. A. Rupar, Asuri N. Prasad, K. Y. Tay, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2] [1] Krankenanstalt Rudolfstiftung, Vienna [2] Genomics Platform, Pasteur Institute of Tunis, Tunisia.Molecular genetics and metabolism reports · 2016
Article
MELAS syndrome due to the m.3291T > C mutation.Molecular genetics and metabolism reports · 2016
Article
Response to: Letter to the Editor regarding: The expanding phenotype of MELAS caused by the m.3291T > C tRNA mutation E. Kelland, C.A. Rupar, Asuri N. Prasad, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2].Molecular genetics and metabolism reports · 2016
Article

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

E KeillandDepartment of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.

C A RuparDepartment of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Biochemistry, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Pathology and Laboratory Medicine, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.

Asuri N PrasadDepartment of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Department of Neurology, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.

K Y TayMedical Imaging, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.

A DownieWestern University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Paediatric Psychology, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.

C PrasadDepartment of Pediatrics, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Children's Health Research Institute, Children's Hospital London Health Sciences Centre, London, Ontario, Canada; Western University, Children's Hospital London Health Sciences Centre, London, Ontario, Canada.

Western University · CAChildren’s Health Research Institute · CALondon Health Sciences Centre · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

m.3291T > C mutation in the MT-TL1 gene has been infrequently encountered in association with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), however remains poorly characterized from a clinical perspective. In the following report we describe in detail the phenotypic features, long term follow up (> 7 years) and management in a Caucasian family with MELAS due to the m.3291T > C mutation and review the literature on m.3291T > C mutation. The clinical phenotype in the proposita included overlapping features of MELAS, MERRF (Myoclonic epilepsy and ragged-red fiber syndrome), MNGIE (Mitochondrial neurogastrointestinal encephalopathy), KSS (Kearns-Sayre Syndrome) and CPEO (Chronic progressive external ophthalmoplegia).

Indexed as

MELASMELAS 3291T > CMitochondrialPhenotypic featurestRNAleu (UUR) mutation

Identifiers

PMID27014580

DOI10.1016/j.ymgmr.2016.02.003

PMCPMC4789386

OpenAlexW2279226497

What OpenQuestion holds

Textmetadata

LicenceCC BY

Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.