Associated Papers
Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract.
Gong X et al.
Frontiers in Pediatrics, 2026
A novel AGK splicing mutation in a patient with Sengers syndrome and left ventricular non-compaction cardiomyopathy.
Fan P et al.
Pediatric Research, 2023
Long term follow-up in two siblings with Sengers syndrome: Case report.
Panicucci C et al.
Italian Journal of Pediatrics, 2022
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
Barbosa-Gouveia S et al.
International Journal of Molecular Sciences, 2021
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C et al.
Journal of Clinical Medicine, 2019
30634555 (PubMed )
Supplement: jcm-08-00068-s001.pdf
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