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Document type:
Journal Article 
Author(s):
Tan, Jing; Wagner, Matias; Stenton, Sarah L; Strom, Tim M; Wortmann, Saskia B; Prokisch, Holger; Meitinger, Thomas; Oexle, Konrad; Klopstock, Thomas 
Title:
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases. 
Abstract:
BACKGROUND: Mitochondrial disorders are a group of rare diseases, caused by nuclear or mitochondrial DNA mutations. Their marked clinical and genetic heterogeneity as well as referral and ascertainment biases render phenotype-based prevalence estimations difficult. Here we calculated the lifetime risk of all known autosomal recessive mitochondrial disorders on basis of genetic data. METHODS: We queried the publicly available Genome Aggregation Database (gnomAD) and our in-house exome database to...    »
 
Journal title abbreviation:
EBioMedicine 
Year:
2020 
Journal volume:
54 
TUM Institution:
617; Institut für Humangenetik