A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis.
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| Title: | A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis. |
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| Authors: | Uctepe E; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Mancılar H; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Esen FN; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Unverengil GG; Department of Pathology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye., Vona B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany., Yesilyurt A; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Acibadem Maslak Hospital, Istanbul, Türkiye. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 Apr; Vol. 197 (4), pp. e63952. Date of Electronic Publication: 2024 Dec 17. |
| Publication Type: | Journal Article; Case Reports; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63952 |
