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. |
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| 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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| ISSN: | 2194-7791 |
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| DOI: | 10.1186/s40348-026-00246-z |
