Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms
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| Veröffentlicht in: | American journal of medical genetics. Part A 2024-03, Vol.194 (3), p.e63475-n/a |
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| container_issue | 3 |
| container_start_page | e63475 |
| container_title | American journal of medical genetics. Part A |
| container_volume | 194 |
| creator | Aljaberi, Rana Vengoechea, Jaime |
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| doi_str_mv | 10.1002/ajmg.a.63475 |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63475-n/a |
| issn | 1552-4825 1552-4833 1552-4833 |
| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Cardiomyopathies - diagnosis Cardiomyopathies - genetics Cardiomyopathy Creatine Creatine Kinase Dystrophin - genetics Exons - genetics Gene deletion Humans Muscular Dystrophy, Duchenne - genetics Sequence Deletion - genetics |
| title | Isolated cardiomyopathy in a pathogenic X‐linked in frame hemizygous DMD exon 49 deletion: A rare presentation with normal creatine kinase levels and absence of musculoskeletal symptoms |
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