| 1 | AMCD1B, MYBPC1
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| Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.
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| Ekhilevitch N, Kurolap A, Oz-Levi D, Mory A, Hershkovitz T, Ast G, Mandel H, Baris HN.
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| Clin Genet 90(1):84-9. doi: 10.1111/cge.12707.
2016
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| 2 | AMCD1B, MYBPC1
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| 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.
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| Li X, Zhong B, Han W, Zhao N, Liu W, Sui Y, Wang Y, Lu Y, Wang H, Li J, Jiang M.
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| PLoS One 10(2):e0117158. doi: 10.1371/journal.pone.0117158. Erratum in: PLoS One. 2015;10(5):e0125310.
2015
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| 3 | AMCD1B, MYBPC1
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| Loss of actomyosin regulation in distal arthrogryposis myopathy due to mutant myosin binding protein-C slow.
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| Ackermann MA, Patel PD, Valenti J, Takagi Y, Homsher E, Sellers JR, Kontrogianni-Konstantopoulos A.
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| FASEB J 27(8):3217-28. doi: 10.1096/fj.13-228882.
2013
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| 4 | AMCD1B, MYBPC1
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| Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
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| 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.
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| Hum Mol Genet 19(7):1165-73. Epub 2010 Jan 2. 2010
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