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A novel splicing mutation identified in a DMD patient: a case report

BACKGROUND: Duchenne muscular dystrophy (DMD, ORPHA:98896) is a lethal X-linked recessive disease that manifests as progressive muscular weakness and wasting. Mutations in the dystrophy gene (DMD) are the main cause of Duchenne muscular dystrophy. CASE PRESENTATION: This study aims to determine nove...

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Detalles Bibliográficos
Autores principales:	Wen, Yuting, Yang, Luo, Shen, Gan, Dai, Siyu, Wang, Jing, Wang, Xiang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694253/ http://dx.doi.org/10.3389/fped.2023.1261318

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