Recessive MYH7-related myopathy in two families.

Sarah J Beecroft,Martijn van de Locht,Josine M de Winter,Coen A Ottenheijm,Caroline A Sewry,Shehla Mohammed,Monique M Ryan,Ian R Woodcock,Lauren Sanders,Rebecca Gooding,Mark R Davis,Emily C Oates,Nigel G Laing,Gianina Ravenscroft,Catriona A McLean,Heinz Jungbluth

Neuromuscular Disorders（2019）

引用 12|浏览75

暂无评分

摘要

•Report clinical and histological features of two families with recessive MYH7-related myopathy.•Skinned myofiber studies on muscle from myosin storage myopathy patients.•Mutant MYH7 myosin expression in COS-7 cells shows altered self-assembly of myosin.

查看译文

关键词

Myosinopathy,Muscle physiology,Myosin storage myopathy,MYH7,Next generation sequencing

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要