Citations for
1AMCD1B, MYBPC1
Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
Ekhilevitch N, Kurolap A, Oz-Levi D, Mory A, Hershkovitz T, Ast G, Mandel H, Baris HN.
Clin Genet 90(1):84-9. doi: 10.1111/cge.12707. 2016
2AMCD1B, MYBPC1
Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.
Li X, Zhong B, Han W, Zhao N, Liu W, Sui Y, Wang Y, Lu Y, Wang H, Li J, Jiang M.
PLoS One 10(2):e0117158. doi: 10.1371/journal.pone.0117158. Erratum in: PLoS One. 2015;10(5):e0125310. 2015
3AMCD1B, MYBPC1
Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow.
Ackermann MA, Patel PD, Valenti J, Takagi Y, Homsher E, Sellers JR, Kontrogianni-Konstantopoulos A.
FASEB J 27(8):3217-28. doi: 10.1096/fj.13-228882. 2013
4AMCD1B, MYBPC1
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB.
Hum Mol Genet 19(7):1165-73. Epub 2010 Jan 2. 2010