Mutations in the J domain of DNAJB6 cause dominant distal myopathy

Johanna Palmio,Per Harald Jonson,Michio Inoue,Jaakko Sarparanta,Rocio Bengoechea,Marco Savarese,Anna Vihola,Manu Jokela,Masanori Nakagawa,Satoru Noguchi,Montse Olivé, Marion Masingue,Emilia Kerty,Peter Hackman,Conrad C. Weihl,Ichizo Nishino,Bjarne Udd

Neuromuscular Disorders（2020）

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摘要

•Five families with dominant distal and LGMD are presented and clinically described.•Two novel disease-causing variants in the J domain of DNAJB6 are identified.•This extends the range of mutations out of the G/F-rich domain.•Two independent methods show evidence of functional defects for these mutations.

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关键词

DNAJB6 gene,Limb-girdle muscular dystrophy,Chaperonopathy

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