Article
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.
American journal of human genetics - 1 Dec 2008
Compton Alison G, Albrecht Douglas E, Seto Jane T, Cooper Sandra T, Ilkovski Biljana, Jones Kristi J, Challis Daniel, Mowat David, Ranscht Barbara, Bahlo Melanie, Froehner Stanley C, North Kathryn N
Abstract excerpt
We have previously reported a group of patients with congenital onset weakness associated with a deficiency of members of the syntrophin-alpha-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...
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