Missense mutations of ACTA1 cause dominant congenital myopathy with cores. Issue 11 (1st November 2004)

• Record Type: Journal Article
• Authors: Kaindl, A M; Rüschendorf, F; Krause, S; Goebel, H-H; Koehler, K; Becker, C; Pongratz, D; Müller-Höcker, J; Nürnberg, P; Stoltenburg-Didinger, G; Lochmüller, H; Huebner, A
• Is Part Of: Journal of medical genetics. Volume 41:Issue 11(2004)
• Page Start: 842
• Page End: 848
• Publication Date: 2004-11-01
• Subjects: ACTC, cardiac alpha-actin gene -- ACTA1, skeletal muscle alpha-actin gene -- CCD, central core disease -- CM, congenital myopathies -- EM, electron microscopy -- MmD, multiminicore disease -- MYH7, myosin heavy chain-7 gene -- RYR1, ryanodine receptor-1 gene -- SEPN1, selenoprotein N-1 gene; ACTA1 -- actinopathy -- congenital myopathy -- core myopathy -- dominant; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.2004.020271
• Languages: English
• ISSNs: 1468-6244