Diagnosis of Duchenne Muscular Dystrophy in a Presymptomatic Infant Using Next-Generation Sequencing and Chromosomal Microarray Analysis: A Case Report

Duchenne muscular dystrophy is a progressive and lethal X-linked recessive neuromuscular disease caused by mutations in the dystrophin gene. It has a high rate of diagnostic delay; early diagnosis and treatment are often not possible due to delayed recognition of muscle weakness and lack of effectiv...

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Detalles Bibliográficos
Autores principales: Park, Eun-Woo, Shim, Ye-Jee, Ha, Jung-Sook, Shin, Jin-Hong, Lee, Soyoung, Cho, Jang-Hyuk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151037/
https://www.ncbi.nlm.nih.gov/pubmed/34064562
http://dx.doi.org/10.3390/children8050377

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