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

LMNA-related muscular dystrophies are a group of rare muscle diseases caused by detrimental changes (i.e. mutations) in the LMNA gene. They exhibit a wide spectrum of clinical symptoms. We reported our clinical and genetic findings from 84 patients recruited from many neuromuscular centers in China over 12 years. We found many new mutations of the LMNA gene that were never reported before. This expended our understanding of the genetic underpinning of this group of disorders. We also describe the various clinical severities of the different mutation patterns and found that the location of the mutation on the gene may be correlated with the severity of the disease. This study provides an important reference for health providers in the field to make clinical diagnosis and understand the disease causing genetic mutation spectrums, and their clinical manifestation. (By Dr. Hui Xiong, https://jmg.bmj.com/content/early/2020/06/22/jmedgenet-2019-106671 )

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