Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis

Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis

ABSTRACT Background Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the diseas...

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Main Authors: 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
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
genetic analysis
mitochondrial disease
mitochondrial DNA depletion syndrome
mitochondrial respiratory chain complex deficiencies
Sengers syndrome
Online Access:https://doi.org/10.1002/mgg3.70048
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