Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia – further expansion of the phenotypic spectrum

被引：0
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作者：
S. Lühl
H. Bode
W. Schlötzer
M. Bartsakoulia
R. Horvath
A. Abicht
M. Stenzel
J. Kirschner
S. C. Grünert
机构：
[1] University Medical Center,Department of Pediatrics and Adolescent Medicine
[2] University Medical Center,Department of Diagnostic and Interventional Radiology, Section Neuroradiology
[3] Newcastle University,John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine
[4] Medical Genetics Centre,Department of Pediatric Radiology
[5] Kliniken der Stadt Köln,Department of Neuropediatrics and Muscle Disorders
[6] Medical Center – University of Freiburg,Department of General Pediatrics, Adolescent Medicine and Neonatology
[7] Faculty of Medicine,undefined
[8] Medical Center – University of Freiburg,undefined
[9] Faculty of Medicine,undefined
来源：
Orphanet Journal of Rare Diseases | / 11卷
关键词：
Mitochondrial disease; RARS2; Pontocerebellar hypoplasia; OXPHOS; Mitochondrial arginyl transfer RNA synthetase ;
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