Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020)

Synnøve M Jensen,Kai Ivar Müller,Svein Ivar Mellgren,Laurence A Bindoff,Magnhild Rasmussen,Kristin Ørstavik,Christoffer Jonsrud,Kristian Tveten,Øivind Nilssen,Marijke Van Ghelue,Kjell Arne Arntzen

Neuromuscular Disorders（2023）

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摘要

•Bimodal onset distribution in FKRP c.826C>A homozygotes•Presentation with exertional myalgia in 35 % of the participants•Females showed earlier wheelchair dependency and need for ventilatory support•Ventilatory support preceded wheelchair dependency in one third of the cases•Cardiomyopathy occurred more frequently in males

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关键词

FKRP,Fukutin-related protein,Limb-girdle muscular dystrophies,Cardiomyopathy,Prevalence,Gender-related LGMDR9 differences

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