Molecular epidemiology of mitochondrial cardiomyopathy: a search among mitochondrial and nuclear genes
C Mazzaccara, B Mirra, F Barretta, M Caiazza… - International Journal of …, 2021 - mdpi.com
Mitochondrial Cardiomyopathy (MCM) is a common manifestation of multi-organ
Mitochondrial Diseases (MDs), occasionally present in non-syndromic cases. Diagnosis of …
Mitochondrial Diseases (MDs), occasionally present in non-syndromic cases. Diagnosis of …
Sengers syndrome: a rare case of cardiomyopathy combined with congenital cataracts in an infant: post-mortem case report
NF Fnon, HH Hassan, HM Ali, ZK Sobh - Cardiovascular Pathology, 2021 - Elsevier
Sengers syndrome is a rare autosomal recessive disorder caused by a mutation in the
Acylglycerol Kinase (AGK) gene with subsequent mitochondrial dysfunction. It is a …
Acylglycerol Kinase (AGK) gene with subsequent mitochondrial dysfunction. It is a …
Case Report: Two Chinese Infants of Sengers Syndrome Caused by Mutations in AGK Gene
B Wang, Z Du, G Shan, C Yan, VW Zhang… - Frontiers in Pediatrics, 2021 - frontiersin.org
Sengers syndrome (OMIM# 212350) is a rare autosomal recessive disorder due to
mutations in acylglycerol kinase (AGK) gene. We report two cases that were diagnosed …
mutations in acylglycerol kinase (AGK) gene. We report two cases that were diagnosed …
Molecular insights into mitochondrial protein translocation and human disease
E Ruiz-Pesini, J Montoya, D Pacheu-Grau - Genes, 2021 - mdpi.com
In human mitochondria, mtDNA encodes for only 13 proteins, all components of the
OXPHOS system. The rest of the mitochondrial components, which make up approximately …
OXPHOS system. The rest of the mitochondrial components, which make up approximately …
Long term follow-up in two siblings with Sengers syndrome: Case report
C Panicucci, MC Schiaffino, C Nesti, M Derchi… - Italian Journal of …, 2022 - Springer
Background Sengers syndrome is characterized by congenital cataract, hypertrophic
cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in …
cardiomyopathy, mitochondrial myopathy, and lactic acidosis associated with mutations in …
Genetics of Mitochondrial Cardiomyopathy
A Towheed, AC Goldstein - Current Cardiovascular Risk Reports, 2023 - Springer
Abstract Purpose of Review Primary mitochondrial disorders (PMD) are a heterogeneous
group of individual genetic multi-systemic diseases that are challenging to diagnose and …
group of individual genetic multi-systemic diseases that are challenging to diagnose and …
[PDF][PDF] Molecular Insights into Mitochondrial Protein Translocation and Human Disease. Genes 2021, 12, 1031
E Ruiz-Pesini, J Montoya, D Pacheu-Grau - 2021 - pdfs.semanticscholar.org
In human mitochondria, mtDNA encodes for only 13 proteins, all components of the
OXPHOS system. The rest of the mitochondrial components, which make up approximately …
OXPHOS system. The rest of the mitochondrial components, which make up approximately …
Molecular insights into mitochondrial protein translocation and human disease
R Pesini, P Grau, M Villarroya - 2021 - zaguan.unizar.es
In human mitochondria, mtDNA encodes for only 13 proteins, all components of the
OXPHOS system. The rest of the mitochondrial components, which make up approximately …
OXPHOS system. The rest of the mitochondrial components, which make up approximately …