Missense mutations of ACTA1 cause dominant congenital myopathy with cores.

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Kaindl AM, Ruschendorf F, Krause S, Goebel HH, Koehler K, Becker C, Pongratz D, Muller-Hocker J, Nurnberg P, Stoltenburg-Didinger G, Lochmuller H, Huebner A

Missense mutations of ACTA1 cause dominant congenital myopathy with cores.

J Med Genet. 2004 Nov;41(11):842-8.

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15520409 [ View in PubMed

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Polypeptides

Name	UniProt ID
Actin, alpha skeletal muscle	P68133	Details