A female case report of LGMD2B with compound heterozygous mutations of the DYSF gene and asymptomatic mutation of the X-linked DMD gene

We report the case of a 31-year-old Chinese woman with a chief complaint of weakness in the lower limbs, which was diagnosed as limb-girdle muscular dystrophy 2B (LGMD2B) with compound heterozygous mutations of the DYSF gene. Meanwhile, this woman is an asymptomatic carrier with the mutation of the...

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Detalles Bibliográficos
Autores principales: Cao, Xiaojie, Zeng, Li, Lu, Zhijie, Fan, Jin, Tan, Song, Zhang, Mingjie, Yin, Zegang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10564995/
https://www.ncbi.nlm.nih.gov/pubmed/37830096
http://dx.doi.org/10.3389/fneur.2023.1213090

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10564995/
https://www.ncbi.nlm.nih.gov/pubmed/37830096
http://dx.doi.org/10.3389/fneur.2023.1213090

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