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

Neuropediatrics. 2017 Aug;48(4):309-314. doi: 10.1055/s-0037-1603776. Epub 2017 Jun 9.

Authors

Saskia B Wortmann^{1

2

3}, Johannes A Mayr¹, Jean Marc Nuoffer⁴, Holger Prokisch^{2

3}, Wolfgang Sperl¹

Affiliations

¹ Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.
² Institute of Human Genetics, Technical University Munich, Munich, Germany.
³ Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany.
⁴ University Institute of Clinical Chemistry, Bern University Hospital, Bern, Switzerland.

PMID: 28599323
DOI: 10.1055/s-0037-1603776

No abstract available

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Biopsy
Child
Humans
Mitochondrial Diseases / diagnosis*
Mitochondrial Diseases / genetics
Mitochondrial Diseases / pathology
Muscles / pathology
Sequence Analysis
Skin / pathology

Grants and funding

I 2741/FWF_/Austrian Science Fund FWF/Austria