Open AccessMitochondrial disorders
Author(s) -
Thomas Klopstock,
Claudia Priglinger,
Ali Yılmaz,
Cornelia Kornblum,
Felix Distelmaier,
Holger Prokisch
Publication year - 2021
Publication title -
deutsches ärzteblatt international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.436
H-Index - 60
ISSN - 1866-0452
DOI - 10.3238/arztebl.m2021.0251
Subject(s) - medicine , mitochondrial disease , disease , ophthalmoparesis , mitochondrial dna , bioinformatics , genetics , pathology , gene , psychiatry , biology , ataxia
Mitochondrial disorders are among the most common heritable diseases, with an overall lifetime risk of approximately one in 1500. Nonetheless, their diagnosis is often missed because of their extreme phenotypic and genotypic heterogeneity.