AUTHOR=Huang Jin , Zhang Chen , Li Jing , Wang Huaming , Cui Xiaojuan , Wang Juan , Zhang Borong , Wang Xiaoqiang , Lin Deming , Zhao Jun , Wen Jiantao TITLE=Nemaline myopathy with scoliosis: a case report JOURNAL=Frontiers in Pediatrics VOLUME=12 YEAR=2024 URL=https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1413096 DOI=10.3389/fped.2024.1413096 ISSN=2296-2360 ABSTRACT=

Nemaline myopathy (NM) is a rare congenital muscle disease that leads to muscle damage, resulting in muscle weakness and atrophy. Cases of scoliosis induced by muscle weakness and atrophy are exceedingly uncommon. The author clinically treated one patient with NM complicated by scoliosis and analyzed its clinical characteristics through a literature review. The pathogenic genes of this patient originated from compound heterozygous mutations c.12471 + 3A>G from the mother and c.7727G>A from the father, leading to the diagnosis of NM accompanied by scoliosis, which represents a relatively rare clinical phenotype.