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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.
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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  Data: A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis.
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  Data: <searchLink fieldCode="AU" term="%22Uctepe+E%22">Uctepe E</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Mancılar+H%22">Mancılar H</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Esen+FN%22">Esen FN</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Unverengil+GG%22">Unverengil GG</searchLink>; Department of Pathology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye.<br /><searchLink fieldCode="AU" term="%22Vona+B%22">Vona B</searchLink>; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.<br /><searchLink fieldCode="AU" term="%22Yesilyurt+A%22">Yesilyurt A</searchLink>; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye.; Acibadem Maslak Hospital, Istanbul, Türkiye.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2025 Apr; Vol. 197 (4), pp. e63952. <i>Date of Electronic Publication: </i>2024 Dec 17.
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        Value: 10.1002/ajmg.a.63952
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              Text: 2025 Apr
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