Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation inMTTL1-Reference-Cited by-同舟云学术

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Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation inMTTL1

Published:2017-02-09 Issue:4 Volume:24 Page:587-593
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Darin N.¹,Hedberg-Oldfors C.²,Kroksmark A.-K.¹,Moslemi A.-R.²,Kollberg G.³,Oldfors A.²

Affiliation:

1. Department of Pediatrics; Sahlgrenska University Hospital; University of Gothenburg; Gothenburg

2. Department of Pathology and Genetics; Sahlgrenska University Hospital; University of Gothenburg; Gothenburg

3. Department of Clinical Chemistry and Transfusion Medicine; Sahlgrenska University Hospital; University of Gothenburg; Gothenburg Sweden

Funder

American Liver Foundation

Västra Götalandsregionen

Ahlqvist's Foundation

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ene.13249/fullpdf

Reference28 articles.

1. The clinical maze of mitochondrial neurology;DiMauro;Nat Rev Neurol,2013

2. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA abnormalities;Darin;Ann Neurol,2001

3. Sequence and organization of the human mitochondrial genome;Anderson;Nature,1981

4. MITOMAP: A Human Mitochondrial Genome Database http://www.mitomap.org

5. Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene;Baric;Eur J Hum Genet,2013

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1. Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile;Journal of Neurology;2023-10-17

2. Mitochondrial Cardiomyopathy: The Roles of mt-tRNA Mutations;Journal of Clinical Medicine;2022-10-30

3. Molecular Genetics Overview of Primary Mitochondrial Myopathies;Journal of Clinical Medicine;2022-01-26

4. Primary mitochondrial myopathies in childhood;Neuromuscular Disorders;2021-10

5. Mitochondrial genome variant m.3250T>C as a possible risk factor for mitochondrial cardiomyopathy;Human Mutation;2020-12

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