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Contiguous Xp21 deletion involving Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome results in rapidly progressive and fatal cardiomyopathy

Published online by Cambridge University Press:  03 January 2025

William Z. Blackstone ,
Seth E. Malaguit ,
Natalie S. Shwaish  and
Erik L. Frandsen Open the ORCID record for Erik L. Frandsen [Opens in a new window]
William Z. Blackstone
Affiliation:
Loma Linda University School of Medicine, Loma Linda, CA, USA
Seth E. Malaguit
Affiliation:
Loma Linda University School of Medicine, Loma Linda, CA, USA
Natalie S. Shwaish
Affiliation:
Loma Linda Children’s Hospital, Department of Pediatric Cardiology, Loma Linda, CA, USA
Erik L. Frandsen*
Affiliation:
Loma Linda Children’s Hospital, Department of Pediatric Cardiology, Loma Linda, CA, USA
*
Corresponding author: Erik L. Frandsen; Email: [email protected]
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Abstract

Dilated cardiomyopathy is an expected manifestation and common cause of death in patients with Duchenne muscular dystrophy. We present an unusually rapid progression of cardiomyopathy in a boy with Duchenne muscular dystrophy. Expanded genetic testing revealed a contiguous Xp21 deletion involving dystrophin and XK genes, responsible for Duchenne muscular dystrophy and McLeod neuroacanthocytosis syndrome, respectively, resulting in a more severe cardiac phenotype.

Keywords

cardiomyopathyDuchenne muscular dystrophyMcLeod neuroacanthocytosis syndromeXp21contiguous gene deletion syndromeDMD
Type
Original Article
Information
Cardiology in the Young , Volume 35 , Issue 2 , February 2025 , pp. 358 - 360
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Copyright
© The Author(s), 2025. Published by Cambridge University Press

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