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Sporadic late onset nemaline myopathy with concurrent dermatological symptoms responding to immunosuppressive treatment.
BMC Neurol. 2023 Jun 16;23(1):233. doi: 10.1186/s12883-023-03283-7.
BMC Neurol. 2023.
PMID: 37328820
Free PMC article.
Autosomal dominant cutis laxa and critical stenosis of the left main coronary artery in a 21-year-old female with an intronic mutation in the elastin gene.
Krarup NT, Hvidbjerg M, Zaremba T, Sommerlund M, Christensen MK.
Krarup NT, et al.
Am J Med Genet A. 2023 Apr;191(4):1059-1064. doi: 10.1002/ajmg.a.63095. Epub 2022 Dec 21.
Am J Med Genet A. 2023.
PMID: 36541930
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