Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients

BACKGROUND: LAMA2-related limb girdle muscular dystrophy (LGMD R23) is rare. The detailed clinical phenotypes and genetic information associated with LGMD R23 are unknown. METHODS: We conducted a retrospective cross-sectional and longitudinal study on 19 LGMD R23 patients. RESULTS: Normal early moto...

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Detalles Bibliográficos
Autores principales: Huang, Xiuli, Tan, Dandan, Zhang, Zaiqiang, Ge, Lin, Liu, Jieyu, Ding, Juan, Yang, Haipo, Wei, Cuijie, Chang, Xingzhi, Yuan, Yun, Yan, Chuanzhu, Xiong, Hui
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/PMC10190595/
https://www.ncbi.nlm.nih.gov/pubmed/37206914
http://dx.doi.org/10.3389/fneur.2023.1158094

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