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

2023-03-30

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	-