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A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings

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Published in:Molecular Genetics & Genomic Medicine
Format: Online Article RSS Article
Published: 2026
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container_title Molecular Genetics & Genomic Medicine
description
discipline_display Genetics
discipline_facet Genetics
format Online Article
RSS Article
genre Journal Article
id rss_article:104944
institution FRELIP
journal_source_facet Molecular Genetics & Genomic Medicine
last_indexed 2026-07-22T03:33:15.430Z
publishDate 2026
publishDateSort 2026
record_format rss_article
spellingShingle A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings
Genetics
General
Genetics
sub_discipline_display General
sub_discipline_facet General
subject_display Genetics
General
Genetics
subject_facet Genetics
General
Genetics
title A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings
title_alt Una variante homocigótica fundadora de ELAC2 en lactantes kuwaitíes con miocardiopatía fatal y acidosis láctica grave refractaria: una revisión retrospectiva de los hallazgos clínicos, cardiológicos y moleculares
Un variant fondateur homozygote ELAC2 chez des nourrissons koweïtiens atteints de cardiomyopathie fatale et d'acidose lactique sévère réfractaire : une revue rétrospective des résultats cliniques, cardiologiques et moléculaires
Uma variante homozigótica fundadora do ELAC2 em bebês kuwaitianos com cardiomiopatia fatal e acidose láctica grave refratária: uma revisão retrospectiva dos achados clínicos, cardiológicos e moleculares
title_auth A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings
title_es_txt Una variante homocigótica fundadora de ELAC2 en lactantes kuwaitíes con miocardiopatía fatal y acidosis láctica grave refractaria: una revisión retrospectiva de los hallazgos clínicos, cardiológicos y moleculares
title_fr_txt Un variant fondateur homozygote ELAC2 chez des nourrissons koweïtiens atteints de cardiomyopathie fatale et d'acidose lactique sévère réfractaire : une revue rétrospective des résultats cliniques, cardiologiques et moléculaires
title_full A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings
title_fullStr A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings
title_full_unstemmed A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings
title_pt_txt Uma variante homozigótica fundadora do ELAC2 em bebês kuwaitianos com cardiomiopatia fatal e acidose láctica grave refratária: uma revisão retrospectiva dos achados clínicos, cardiológicos e moleculares
title_short A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings
title_sort a homozygous founder elac2 variant in kuwaiti infants with fatal cardiomyopathy and refractory severe lactic acidosis: a retrospective review of the clinical, cardiological and molecular findings
topic Genetics
General
Genetics
url https://onlinelibrary.wiley.com/doi/10.1002/mgg3.70274?af=R