1 | CNM7, HACD1
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| Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems.
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| Walmsley GL, Blot S, Venner K, Sewry C, Laporte J, Blondelle J, Barthélémy I, Maurer M, Blanchard-Gutton N, Pilot-Storck F, Tiret L, Piercy RJ.
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| Am J Pathol 187(2):441-456. doi: 10.1016/j.ajpath.2016.10.002. Epub 2016 Dec 8.
2017
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2 | CNM7, HACD1
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| HACD1, a regulator of membrane composition and fluidity, promotes myoblast fusion and skeletal muscle growth.
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| Blondelle J, Ohno Y, Gache V, Guyot S, Storck S, Blanchard-Gutton N, Barthélémy I, Walmsley G, Rahier A, Gadin S, Maurer M, Guillaud L, Prola A, Ferry A, Aubin-Houzelstein G, Demarquoy J, Relaix F, Piercy RJ, Blot S, Kihara A, Tiret L, Pilot-Storck F.
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| J Mol Cell Biol 7(5):429-40. doi: 10.1093/jmcb/mjv049. Epub 2015 Jul 9.
2015
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3 | CNM7, HACD1
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| Congenital myopathy is caused by mutation of HACD1.
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| Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R.
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| Hum Mol Genet 22(25):5229-36. doi: 10.1093/hmg/ddt380. Epub 2013 Aug 9.
2013
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