PMID: 36995778

Modulating fast skeletal muscle contraction protects skeletal muscle in animal models of Duchenne muscular dystrophy.

The Journal of clinical investigation
Russell, Alan J AJ, DuVall, Mike M, Barthel, Benjamin B, Qian, Ying Y, Peter, Angela K AK, Newell-Stamper, Breanne L BL, Hunt, Kevin K, Lehman, Sarah J SJ, Madden, Molly R MR, Schlachter, Stephen T ST, Robertson, Benjamin D BD, Van Deusen, Ashleigh A, Rodriguez, Hector M HM, Vera, Carlos D CD, Su, Yu Y, Claflin, Dennis R DR, Brooks, Susan V SV, Nghiem, Peter P PP, Rutledge, Alexis A, Juehne, Twlya I TI, Yu, Jinsheng J, Barton, Elisabeth R ER, Luo, Yangyi E YE, Patsalos, Andreas A, Nagy, Laszlo L, Sweeney, H Lee HL, Leinwand, Leslie A LA, Koch, Kevin K

5 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
4-55599321-A-T KIT c.2447A>T p.D816V Missense 17/21 -
7-140453136-A-T BRAF c.1799T>A p.V600E Missense 15/18 -
9-133748283-C-T ABL1 c.944C>T p.T315I Missense 6/11 -
9-133738363-G-A ABL1 c.763G>A p.E255K Missense 4/11 -
4-55593610-T-A KIT c.1676T>A p.V559D Missense 11/21 -