Molecular characterization and reclassification of a 1.18 Mbp DMD duplication following positive carrier screening for Duchenne/Becker muscular dystrophy.

Autor: Zepeda-Mendoza CJ; Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA., Bontrager JE; Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA., Fisher CF; Dell Children's Medical Group Austin Texas USA., McDonald A; Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA., George-Abraham JK; Dell Children's Medical Group Austin Texas USA., Hasadsri L; Division of Laboratory Genetics and Genomics Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA.
Jazyk: angličtina
Zdroj: Clinical case reports [Clin Case Rep] 2022 Jul 11; Vol. 10 (7), pp. e6008. Date of Electronic Publication: 2022 Jul 11 (Print Publication: 2022).
DOI: 10.1002/ccr3.6008
Abstrakt: A 2-month-old male patient harboring a duplication of DMD exons 1-7 classified as pathogenic by an outside institution presented with mildly elevated creatine phosphokinase (CK); molecular breakpoint analysis by our laboratory reclassified the duplication as likely benign. To date, proband continues to develop normally with decreased CK, further supporting our reclassification.
Competing Interests: The authors declare that they have no competing interests.
(© 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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