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Dokumenttyp:
journal article 
Autor(en):
Wortmann, Saskia B; Mayr, Johannes A; Nuoffer, Jean Marc; Prokisch, Holger; Sperl, Wolfgang 
Titel:
A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. 
Abstract:
Mitochondrial diseases are highly heterogeneous on the clinical, biochemical, and genetic level. In the traditional diagnostic approach (\"biopsy first\") the evaluation of the affected individual and his body fluids, combined with the analysis of the respiratory chain enzymes in muscle based the subsequent Sanger sequencing of single candidate genes (\"from function to gene\"). Within the past few years, next-generation sequencing techniques of leucocyte-derived DNA (e.g., exome sequencing), wi...    »
 
Zeitschriftentitel:
Neuropediatrics 
Jahr:
2017 
Band / Volume:
48 
Heft / Issue:
Seitenangaben Beitrag:
309-314 
Sprache:
eng 
Print-ISSN:
0174-304X 
TUM Einrichtung:
Institut für Humangenetik