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

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.

Review

Saskia B Wortmann et al. Neuropediatrics. 2017 Aug.

. 2017 Aug;48(4):309-314.

doi: 10.1055/s-0037-1603776. Epub 2017 Jun 9.

Saskia B Wortmann^{1

2

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

3}, Wolfgang Sperl¹

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.

No abstract available

Conflict of interest statement

Disclosure The authors report no conflicts of interest in this work.