Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy by 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 in American journal of human genetics (2008).

[PMID: 19026398] PubMed

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