A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing
Author:
Publisher
The Korean Society of Neonatology
Subject
Pharmacology (medical),Complementary and alternative medicine,Pharmaceutical Science
Link
http://www.neo-med.org/upload/pdf/nm-2021-28-2-89.pdf
Reference12 articles.
1. Clinical and genetic diversity of nemaline myopathy from a single neuromuscular center in Korea
2. New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy
3. Nemaline myopathy: A clinical study of 143 cases
4. Recent advances in nemaline myopathy
5. Distal myopathy caused by homozygous missense mutations in the nebulin gene
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