Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene

INTRODUCTION: Mutations of LAMA2 gene are associated with congenital muscular dystrophy (CMD). The LAMA2-related CMD mainly consists of two diseases, merosin deficient congenital muscular dystrophies type 1A (MDC1A) and limb girdle muscular dystrophy 23 (LGMD23). LGMD23 is characterized by slowly pr...

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Detalles Bibliográficos
Autores principales: Xu, Yuqing, Zhu, Linyan, Qian, Yeqing, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316388/
https://www.ncbi.nlm.nih.gov/pubmed/37404563
http://dx.doi.org/10.3389/fped.2023.1191068

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