Publications:

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.

Frontiers In Genetics

Cesar, Sergi S; Coll, Monica M; Fiol, Victoria V; Fernandez-Falgueras, Anna A; Cruzalegui, Jose J; Iglesias, Anna A; Moll, Isaac I; Perez-Serra, Alexandra A; Martínez-Barrios, Estefanía E; Ferrer-Costa, Carles C; Del Olmo, Bernat B; Puigmulè, Marta M; Alcalde, Mireia M; Lopez, Laura L; Pico, Ferran F; Berrueco, Rubén R; Brugada, Josep J; Zschaeck, Irene I; Natera-de Benito, Daniel D; Carrera-García, Laura L; Exposito-Escudero, Jessica J; Ortez, Carlos C; Nascimento, Andrés A; Brugada, Ramon R; Sarquella-Brugada, Georgia G; Campuzano, Oscar O

Publication Date: 2023

Variant appearance in text: DMD: 745C>T

PubMed Link: 37035729

Variant Present in the following documents:

• fgene-14-1135438.pdf

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Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.

Journal Of Medical Genetics

Fan, Yanbin Y; Tan, Dandan D; Song, Danyu D; Zhang, Xu X; Chang, Xingzhi X; Wang, Zhaoxia Z; Zhang, Cheng C; Chan, Sophelia Hoi-Shan SH; Wu, Qixi Q; Wu, Liwen L; Wang, Shuang S; Yan, Hui H; Ge, Lin L; Yang, Haipo H; Mao, Bing B; Bönnemann, Carsten C; Liu, Jingying J; Wang, Suxia S; Yuan, Yun Y; Wu, Xiru X; Zhang, Hong H; Xiong, Hui H

Publication Date: 2021-05

Variant appearance in text: DMD: 745C>T

PubMed Link: 32571898

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106671.pdf

View BVdb publication page