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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067. Epub 2012 Apr 4.
Hum Mutat. 2012.
PMID: 22396310
Free PMC article.
Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.
Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH.
Agrawal PB, et al. Among authors: greenleaf rs.
Am J Hum Genet. 2007 Jan;80(1):162-7. doi: 10.1086/510402. Epub 2006 Nov 14.
Am J Hum Genet. 2007.
PMID: 17160903
Free PMC article.
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The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
Lehtokari VL, Greenleaf RS, DeChene ET, Kellinsalmi M, Pelin K, Laing NG, Beggs AH, Wallgren-Pettersson C.
Lehtokari VL, et al. Among authors: greenleaf rs.
Neuromuscul Disord. 2009 Mar;19(3):179-81. doi: 10.1016/j.nmd.2008.12.001. Epub 2009 Feb 15.
Neuromuscul Disord. 2009.
PMID: 19232495
Free PMC article.
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