Mitochondrial diseases. An update

被引:1
|
作者
Sperl, W. [1 ]
Prokisch, H. [2 ]
Karall, D. [3 ]
Mayr, J. A. [1 ]
Freisinger, P. [4 ]
机构
[1] Paracelsus Med Privatuniv PMU, Univ Klin Kinder & Jugendheilkunde, Salzburger Landeskliniken SALK, A-5020 Salzburg, Austria
[2] Tech Univ Munich, Inst Humangenet, D-8000 Munich, Germany
[3] Med Univ Innsbruck, Klin Padiat Neonatol Neuropadiat Angeborene Stoff, Innsbruck, Austria
[4] Klin Kinder & Jugendmed, Reutlingen, Germany
关键词
Mitochondria; Mitochondriopathies; Lactic acidosis; Mitochondrial DNA; Mitochondrial genetics; ATP SYNTHASE; DEFICIENCY; MUTATIONS; ACTIVATION;
D O I
10.1007/s00112-011-2447-x
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Mitochondrial disorders ( mitochondriopathies) are one of the most commonly occurring neurometabolic disorders in children. In recent years biochemical, i.e. functional analyses, and advances in genetic methods (i.e. new sequencing techniques) have led to the discovery of numerous new diseases. Because of the heterogeneous clinical pictures and the complexity of the diagnostic workup a close collaboration of competence centers and a networking between them is required. New promising therapeutic approaches need to be verified in prospective multicenter studies.
引用
收藏
页码:848 / 854
页数:7
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