Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress

Marie-Céline François-Heude,Ulrike Walther-Louvier,Caroline Espil-Taris, Pierre Beze-Beyrie,François Rivier,Eloise Baudou,Emmanuelle Uro-Coste,Valérie Rigau, Marie Laure Martin Negrier,John Rendu,Raul Juntas Morales,Henri Pégeot,Corinne Thèze,Delphine Lacourt, Anne Cécile Coville,Mireille Cossée,Claude Cances

European Journal of Paediatric Neurology（2021）

引用 5|浏览11

暂无评分

摘要

With the exception of infantile spinal muscular atrophy (SMA) and congenital myotonic dystrophy 1 (DM1), congenital myopathies and muscular dystrophies with neonatal respiratory distress pose diagnostic challenges. Next-generation sequencing (NGS) provides hope for the diagnosis of these rare diseases.

查看译文

关键词

Congenital myopathy,Congenital muscular dystrophy,Neuromuscular diseases,Neonatal respiratory distress,Next-generation sequencing

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要