Nemaline myopathy with scoliosis: a case report.
NEB gene
clinical
muscle weakness
nemaline myopathy
scoliosis
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2024
2024
Historique:
received:
06
04
2024
accepted:
30
09
2024
medline:
30
10
2024
pubmed:
30
10
2024
entrez:
30
10
2024
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 39474605
doi: 10.3389/fped.2024.1413096
pmc: PMC11518715
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Pagination
1413096Informations de copyright
© 2024 Huang, Zhang, Li, Wang, Cui, Wang, Zhang, Wang, Lin, Zhao and Wen.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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