Journal article
Mutations in Contactin-1, a Neural Adhesion and Neuromuscular Junction Protein, Cause a Familial Form of Lethal Congenital Myopathy
AG Compton, DE Albrecht, JT Seto, ST Cooper, B Ilkovski, KJ Jones, D Challis, D Mowat, B Ranscht, M Bahlo, SC Froehner, KN North
American Journal of Human Genetics | CELL PRESS | Published : 2008
Abstract
We have previously reported a group of patients with congenital onset weakness associated with a deficiency of members of the syntrophin-α-dystrobrevin subcomplex and have demonstrated that loss of syntrophin and dystrobrevin from the sarcolemma of skeletal muscle can also be associated with denervation. Here, we have further studied four individuals from a consanguineous Egyptian family with a lethal congenital myopathy inherited in an autosomal-recessive fashion and characterized by a secondary loss of β2-syntrophin and α-dystrobrevin from the muscle sarcolemma, central nervous system involvement, and fetal akinesia. We performed homozygosity mapping and candidate gene analysis and identif..
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Awarded by National Institutes of Health
Funding Acknowledgements
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).