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Journals
Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
Open Access
Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study
M Rogac
M Rogac
,
D Neubauer
D Neubauer
,
L Leonardis
L Leonardis
,
N Pecaric
N Pecaric
,
M Meznaric
M Meznaric
,
A Maver
A Maver
,
W Sperl
W Sperl
,
BM Garavaglia
BM Garavaglia
,
E Lamantea
E Lamantea
and
B Peterlin
B Peterlin
| Jun 05, 2022
Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
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Article Category:
Original Article
Published Online:
Jun 05, 2022
Page range:
5 - 14
DOI:
https://doi.org/10.2478/bjmg-2021-0019
Keywords
Exome-sequencing
,
Magnetic resonance imaging (MRI)
,
Mitochondrial disease (MD)
,
Nijmegen mitochondrial disease criteria (MDC)
,
Muscle biopsy
© 2021 M Rogac et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
M Rogac
Clinical Institute of Genomic Medicine, University Medical Center Ljubljana
Ljubljana, Slovenia
D Neubauer
Department of Child, Adolescent and Developmental Neurology, Children's Hospital, University Medical Center Ljubljana
Ljubljana, Slovenia
L Leonardis
Institute of Clinical Neurophysiology, Division of Neurology, University Medical Center Ljubljana
Ljubljana, Slovenia
N Pecaric
Department of Radiology, University Medical Center Ljubljana
Ljubljana, Slovenia
M Meznaric
Institute of Anatomy, Faculty of Medicine, University of Ljubljana
Ljubljana, Slovenia
A Maver
Clinical Institute of Genomic Medicine, University Medical Center Ljubljana
Ljubljana, Slovenia
W Sperl
Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University
Salzburg, Austria
BM Garavaglia
Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico “Carlo Besta”
Milan, Italy
E Lamantea
Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico “Carlo Besta”
Milan, Italy
B Peterlin
Clinical Institute of Genomic Medicine, University Medical Center Ljubljana
Ljubljana, Slovenia