Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant-Reference-Cited by-同舟云学术

Expression pattern of mitochondrial respiratory chain enzymes in skeletal muscle of patients with mitochondrial myopathy associated with the homoplasmic m.14674T>C variant

Published:2021-11-21 Issue: Volume: Page:
ISSN:1015-6305
Container-title:Brain Pathology
language:en
Short-container-title:Brain Pathology

Author:

Roos Sara¹^ORCID,Hedberg‐Oldfors Carola¹,Visuttijai Kittichate¹^ORCID,Stein My²,Kollberg Gittan¹,Elíasdóttir Ólöf³,Lindberg Christopher³,Darin Niklas⁴,Oldfors Anders¹

Affiliation:

1. Department of Laboratory Medicine Institute of Biomedicine University of Gothenburg Gothenburg Sweden

2. Department of Pediatrics Helsingborg Hospital Helsingborg Sweden

3. Department of Neurology Neuromuscular Center Sahlgrenska University Hospital Gothenburg Sweden

4. Department of Pediatrics Institute of Clinical Sciences University of Gothenburg Gothenburg Sweden

Funder

Vetenskapsrådet

Publisher

Wiley

Subject

Clinical Neurology,Pathology and Forensic Medicine,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bpa.13038

Reference24 articles.

1. Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

2. Reversible infantile respiratory chain deficiency: A clinical and molecular study

3. Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease

4. Differential diagnosis of fatal and benign cytochrome c oxidase‐deficient myopathies of infancy

5. Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency;DiMauro S;Trans Am Neurol Assoc,1981

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