Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing-Reference-Cited by-同舟云学术

Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing

Published:2019-07-15 Issue:2 Volume:39 Page:163-171
ISSN:1551-3815
Container-title:Fetal and Pediatric Pathology
language:en
Short-container-title:Fetal and Pediatric Pathology

Author:

Guleray Naz¹,Kosukcu Can¹²,Taskiran Zihni Ekim¹,Simsek Kiper Pelin Ozlem³,Utine Gulen Eda³,Gucer Safak⁴,Tokatli Aysegul⁵,Boduroglu Koray¹³,Alikasifoglu Mehmet¹³

Affiliation:

1. Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey;

2. Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Turkey;

3. Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey;

4. Division of Pediatric Pathology, Department of Pediatrics, Hacettepe Universitesi Faculty of Medicine, Ankara, Turkey;

5. Division of Pediatric Metabolism and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey

Funder

Hacettepe University

Publisher

Informa UK Limited

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/15513815.2019.1639089

Reference20 articles.

1. Mitochondrial DNA maintenance defects

2. Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

3. Sengers disease: A rare association of hypertrophic cardiomyopathy and congenital cataracts

4. Congenital cataract and mitochondrial myopathy of skeletal and heart muscle associated with lactic acidosis after exercise

5. Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome

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2. Genetics of Mitochondrial Cardiomyopathy;Current Cardiovascular Risk Reports;2023-02-10

3. Long term follow-up in two siblings with Sengers syndrome: Case report;Italian Journal of Pediatrics;2022-10-17

4. Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report;Cardiovascular Pathology;2021-09

5. Molecular Insights into Mitochondrial Protein Translocation and Human Disease;Genes;2021-07-01