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Tytuł pozycji:

A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.

Tytuł :
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
Autorzy :
Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, the Netherlands. Electronic address: .
Blakely EL; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Hendrickx ATM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC), P. Debyelaan 25, P.O. Box 5800, 6202 AZ Maastricht, the Netherlands.
Hardy SA; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Hopton S; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
Falkous G; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
de Coo IFM; Department of Neurology and Department of Pediatrics, Erasmus MC, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands; Department of Genetics and Cell Biology, Maastricht University, PO Box 616, 6200 MD Maastricht, the Netherlands; Department of Neurology, Medical Spectrum Twente, Koningsplein 1, 7512 KZ Enschede, the Netherlands.
Smeets HJM; Department of Genetics and Cell Biology, Maastricht University, PO Box 616, 6200 MD Maastricht, the Netherlands; MHeNs School for Mental Health and Neuroscience, Maastricht University, PO Box 616, 6200 MD Maastricht, the Netherlands.
van der Beek NME; Department of Neurology and Department of Pediatrics, Erasmus MC, Doctor Molewaterplein 40, 3015 GD Rotterdam, the Netherlands.
Taylor RW; Highly Specialised Mitochondrial Diagnostic Laboratory, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2019 Sep; Vol. 29 (9), pp. 693-697. Date of Electronic Publication: 2019 Aug 21.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Język :
English
Imprint Name(s) :
Original Publication: Oxford ; New York : Pergamon Press, c1991-
MeSH Terms :
DNA, Mitochondrial/*genetics
Muscle, Skeletal/*pathology
Ophthalmoplegia, Chronic Progressive External/*genetics
RNA, Transfer, Met/*genetics
Aged ; Electron Transport Complex IV/metabolism ; Female ; Humans ; Muscle, Skeletal/metabolism ; Mutation ; Severity of Illness Index
Grant Information :
G0800674 United Kingdom MRC_ Medical Research Council; MR/L016354/1 United Kingdom MRC_ Medical Research Council; 203105/Z/16/Z United Kingdom WT_ Wellcome Trust
Contributed Indexing :
Keywords: Chronic progressive external ophthalmoplegia*; MTTM*; Mitochondrial disease*; Myopathy*; m.4414T>C*; mtDNA variant*
Substance Nomenclature :
0 (DNA, Mitochondrial)
0 (RNA, Transfer, Met)
EC 1.9.3.1 (Electron Transport Complex IV)
Entry Date(s) :
Date Created: 20190907 Date Completed: 20200824 Latest Revision: 20210110
Update Code :
20211221
DOI :
10.1016/j.nmd.2019.08.005
PMID :
31488384
Czasopismo naukowe
We report a novel mitochondrial m.4414T>C variant in the mt-tRNA Met (MT-TM) gene in an adult patient with chronic progressive external ophthalmoplegia and myopathy whose muscle biopsy revealed focal cytochrome c oxidase (COX)-deficient and ragged red fibres. The m.4414T>C variant occurs at a strongly evolutionary conserved sequence position, disturbing a canonical base pair and disrupting the secondary and tertiary structure of the mt-tRNA Met . Definitive evidence of pathogenicity is provided by clear segregation of m.4414T>C mutant levels with COX deficiency in single muscle fibres. Interestingly, the variant is present in skeletal muscle at relatively low levels (30%) and undetectable in accessible, non-muscle tissues from the patient and her asymptomatic brother, emphasizing the continuing requirement for a diagnostic muscle biopsy as the preferred tissue for mtDNA genetic investigations of mt-tRNA variants leading to mitochondrial myopathy.
(Copyright © 2019 The Author(s). Published by Elsevier B.V. All rights reserved.)

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