article_metadata: Kohta Nakamura Yukiko Yatsuka Sachie Naito Akira Hasegawa Takeya Kasukawa Atsushi Kondo Yoshihito Kishita Yohei Sugiyama Takanori Onuki Tomohiro Ebihara Tomoko Tsuruoka Takuya Fushimi Akira Ohtake Kei Murayama Atsuko Imai-Okazaki Yasushi Okazaki
article_metadata: 10.1002/mgg3.70048
article_metadata: Mol Genet Genomic Med
article_metadata: 2025 Jan;13(1):e70048.
article_metadata: sengers syndrome genetic analysis mitochondrial dna depletion syndrome mitochondrial disease mitochondrial respiratory chain complex deficiencies
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/39817524/
article_metadata: Cataract / diagnosis Cataract / genetics Phosphotransferases (Alcohol Group Acceptor) / genetics
article_metadata: Cataract / diagnosis Cataract / genetics Phosphotransferases (Alcohol Group Acceptor) / genetics Case Reports Acidosis, Lactic / diagnosis Acidosis, Lactic / genetics Cardiomyopathies Cardiomyopathy, Hypertrophic / diagnosis Cardiomyopathy, Hypertrophic / genetics Female Genetic Testing / methods Genetic Testing / standards Humans Male Muscular Diseases / diagnosis Muscular Diseases / genetics Whole Genome Sequencing / methods Phosphotransferases (Alcohol Group Acceptor) AGK protein, human Cataract and cardiomyopathy
article_metadata: PMC11736639
article_metadata: 39817524
article_metadata: Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis
article_metadata: 2025