Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22122/fullpdf
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2. Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin;Chen;Biochem J,2011
3. Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract;Cohen;Invest Ophthalmol Vis Sci,2007
4. Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation;Feinstein;Am J Hum Genet,2010
5. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1;Gurnett;Hum Mol Genet,2010
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