Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease-Reference-Cited by-同舟云学术

Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease

Published:2019-06-11 Issue:5 Volume:42 Page:909-917
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Wagner Matias¹²³,Berutti Riccardo¹²,Lorenz‐Depiereux Bettina²,Graf Elisabeth²,Eckstein Gertrud²,Mayr Johannes A.⁴,Meitinger Thomas¹²,Ahting Uwe¹,Prokisch Holger¹²,Strom Tim M.¹²,Wortmann Saskia B.¹²⁴^ORCID

Affiliation:

1. Institute of Human GeneticsTechnical University München Munich Germany

2. Institute of Human GeneticsHelmholtz Zentrum München Neuherberg Germany

3. Institute for NeurogenomicsHelmholtz Zentrum München Neuherberg Germany

4. University Children's HospitalParacelsus Medical University (PMU) Salzburg Austria

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12109

Reference16 articles.

1. A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era

2. Finding the lost treasures in exome sequencing data

3. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

4. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

5. Whole exome sequencing of suspected mitochondrial patients in clinical practice

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