Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy
Alison G Compton, Douglas E Albrecht, Jane T Seto, Sandra T Cooper, Biljana Ilkovski, Kristi J Jones, Daniel Challis, David Mowat, Barbara Ranscht, Melanie Bahlo, Stanley C Froehner, Kathryn N North
American Journal of Human Genetics | CELL PRESS | Published : 2008
Awarded by NIH
This work was supported by grants from the Muscular Dystrophy Association of USA (S.C.F. and K.N.N.) and the NHMRC (K.N.N.) and the NIH (PO1 NS046788 to S.C.F. and NS038297 to B.R.). M.B. is supported by an NHMRC Career Development Award. We thank Dr. Alex Kan, Department of Anatomical Pathology, The Children's Hospital at Westmead, for interpretation of muscle electron microscopy. We acknowledge and thank Joanna Raftery, Dr. Nan Yang, and Dr. Daniel MacArthur for input into prioritization and sequence analysis of candidate disease genes and Vivienne Tobias, Department of Anatomical Pathology, South Eastern Area Laboratory Services, Sydney for initial muscle histology and sample handling collection (V:2, V:3, and V:4).