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

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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Bibliographic Details
Main Authors: Eun-Woo Park, Ye-Jee Shim, Jung-Sook Ha, Jin-Hong Shin, Soyoung Lee, Jang-Hyuk Cho
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Children
Subjects:
muscular dystrophy
Duchenne
genetic testing
creatinine kinase
early diagnosis
Online Access:https://www.mdpi.com/2227-9067/8/5/377

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https://www.mdpi.com/2227-9067/8/5/377

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