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Cardiomyopathy and mitochondrial encephalomyopathy in a female child associated with a heterozygous X-linked AIFM1 variant.

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Title: Cardiomyopathy and mitochondrial encephalomyopathy in a female child associated with a heterozygous X-linked AIFM1 variant.
Authors: Sandmann C; Department of Genetics, Harvard Medical School, Boston, MA, USA. christoph_sandmann@hms.harvard.edu., Gudapati S; Department of Pediatric and Congenital Cardiology, Heidelberg University Hospital, Heidelberg, Germany., Mayr JA; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Institute of Human Genetics, Paracelsus Medical University, Salzburg, Austria., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kovacevic A; Department of Pediatric and Congenital Cardiology, Heidelberg University Hospital, Heidelberg, Germany., Syrbe S; Division of Pediatric Epileptology, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Clinic 1, Heidelberg University Hospital, Heidelberg, Germany. steffen.syrbe@med.uni-heidelberg.de.
Source: Molecular and cellular pediatrics [Mol Cell Pediatr] 2026 Jun 22; Vol. 13 (1). Date of Electronic Publication: 2026 Jun 22.
Publication Type: Journal Article
Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 101660689 Publication Model: Electronic Cited Medium: Print ISSN: 2194-7791 (Print) Linking ISSN: 21947791 NLM ISO Abbreviation: Mol Cell Pediatr Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Cardiomyopathy and mitochondrial encephalomyopathy in a female child associated with a heterozygous X-linked AIFM1 variant.
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  Data: <searchLink fieldCode="AU" term="%22Sandmann+C%22">Sandmann C</searchLink>; Department of Genetics, Harvard Medical School, Boston, MA, USA. christoph_sandmann@hms.harvard.edu.<br /><searchLink fieldCode="AU" term="%22Gudapati+S%22">Gudapati S</searchLink>; Department of Pediatric and Congenital Cardiology, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Mayr+JA%22">Mayr JA</searchLink>; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.; Institute of Human Genetics, Paracelsus Medical University, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Jamra+RA%22">Jamra RA</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Kovacevic+A%22">Kovacevic A</searchLink>; Department of Pediatric and Congenital Cardiology, Heidelberg University Hospital, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Syrbe+S%22">Syrbe S</searchLink>; Division of Pediatric Epileptology, Medical Faculty of Heidelberg, Center for Child and Adolescent Medicine, Clinic 1, Heidelberg University Hospital, Heidelberg, Germany. steffen.syrbe@med.uni-heidelberg.de.
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  Data: <searchLink fieldCode="JN" term="%22101660689%22">Molecular and cellular pediatrics</searchLink> [Mol Cell Pediatr] 2026 Jun 22; Vol. 13 (1). <i>Date of Electronic Publication: </i>2026 Jun 22.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer%22">Springer </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101660689 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>2194-7791 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2221947791%22">21947791 </searchLink><i>NLM ISO Abbreviation: </i>Mol Cell Pediatr <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.1186/s40348-026-00246-z
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      – TitleFull: Cardiomyopathy and mitochondrial encephalomyopathy in a female child associated with a heterozygous X-linked AIFM1 variant.
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              Text: 2026 Jun 22
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