Family Occurrence of an m.3303C>T Point Mutation in the

Humans Point Mutation Cardiomyopathies / genetics Female Male RNA, Transfer, Leu / genetics DNA, Mitochondrial / genetics Pedigree Infant, Newborn Adult Infant Muscular Diseases / genetics
cardiomyopathy lactic acidosis mitochondrial disease

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
30 Sep 2024
Historique:
received: 22 07 2024
revised: 22 09 2024
accepted: 27 09 2024
medline: 26 10 2024
pubmed: 26 10 2024
entrez: 26 10 2024
Statut: epublish

Résumé

This paper discusses the cases of siblings that were born healthy, then diagnosed in their neonatal periods with cardiomyopathy and/or severe metabolic acidosis, which ran progressive courses and contributed to death in infancy. Molecular testing of the children confirmed the presence of an m.3303C>T point mutation in the mitochondrial DNA in the

Identifiants

DOI: 10.3390/genes15101289 PMID: 39457413
pubmed: 39457413
pii: genes15101289
doi: 10.3390/genes15101289
pii:
doi:

Substances chimiques

MT-TL1 tRNA, human 0
RNA, Transfer, Leu 0
DNA, Mitochondrial 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Olga Fałek (O)

Department of Intensive Care and Congenital Malformations of Newborns and Infants, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.

Dorota Wesół-Kucharska (D)

Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, 04-730 Warsaw, Poland.
ORCID: 0000-0003-0274-1278

Ewa Starostecka (E)

Department of Endocrinology and Metabolic Diseases, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.

Dariusz Rokicki (D)

Department of Pediatrics, Nutrition and Metabolic Diseases, Children's Memorial Health Institute, 04-730 Warsaw, Poland.
ORCID: 0000-0002-9736-2838

Katarzyna Fortecka-Piestrzeniewicz (K)

Department of Intensive Care and Congenital Malformations of Newborns and Infants, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.

Łukasz Kępczyński (Ł)

Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.
ORCID: 0000-0002-2882-5448

Dorota Piekutowska-Abramczuk (D)

Department of Medical Genetics, Children's Memorial Health Institute, 04-730 Warsaw, Poland.

Elżbieta Ciara (E)

Department of Medical Genetics, Children's Memorial Health Institute, 04-730 Warsaw, Poland.
ORCID: 0000-0002-1065-7968

Iwona Maroszyńska (I)

Department of Intensive Care and Congenital Malformations of Newborns and Infants, Polish Mother's Memorial Hospital-Research Institute, 93-338 Lodz, Poland.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Family Occurrence of an m.3303C>T Point Mutation in the
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation ponctuelle › Family Occurrence of an m.3303C>T Point Mutation in the
questionsmedicales.fr › Maladies cardiovasculaires › Cardiopathies › Cardiomyopathies › Family Occurrence of an m.3303C>T Point Mutation in the
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ARN › ARN de transfert › ARN de transfert spécifiques des différents acides aminés › ARN de transfert de la leucine › Family Occurrence of an m.3303C>T Point Mutation in the
questionsmedicales.fr › Acides nucléiques, nucléotides et nucléosides › Acides nucléiques › ADN › ADN mitochondrial › Family Occurrence of an m.3303C>T Point Mutation in the
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Family Occurrence of an m.3303C>T Point Mutation in the
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Family Occurrence of an m.3303C>T Point Mutation in the
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Family Occurrence of an m.3303C>T Point Mutation in the
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Family Occurrence of an m.3303C>T Point Mutation in the
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies musculaires › Family Occurrence of an m.3303C>T Point Mutation in the