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CONGENITAL MYOPATHY 25
- ... Sewry C, Phadke R, Gautel M, Muntoni F. Congenital myopathies: disorders of ... Orphanet J Rare Dis. 2007 May 15;2:25. doi: 10.1186/1750-1172-2-25. Citation ...
- ... myotubular) myopathy. Orphanet J Rare Dis. 2008 Sep 25;3:26. doi: ... congenital myopathy with prominent internal nuclei and atypical cores. Am ...
- ... type disproportion have an affected relative. CFTD CFTDM Congenital myopathy with fiber type disproportion Genetic Testing Registry: Congenital myopathy with fiber type disproportion Congenital fiber-type disproportion ...
- ... Testing Registry: Actin accumulation myopathy Genetic Testing Registry: Congenital myopathy 23 Genetic Testing Registry: Congenital myopathy 4B, autosomal ...
- ... autosomal recessive form Genetic Testing Registry: Batten-Turner congenital myopathy Thomsen and Becker disease National Organization for Rare ...
- ... Testing Registry: Ullrich congenital muscular dystrophy 1A Bethlem myopathy Congenital muscular dystrophy, Ullrich type National Organization for Rare ...
- ... It is considered part of a class of muscle disorders called congenital muscular dystrophies and is sometimes called congenital muscular ... Born AP, Duno M, Vissing J. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. Muscle Nerve. 2015 ...
- ... molecular, diagnostic and clinical spectrum. Neurology. 2003 Feb 25;60(4):657-64. doi: 10.1212/01. ... Regulation of RNA Processing. Compr Physiol. 2018 Mar 25;8(2):509-553. doi: 10.1002/cphy. ...
- ... Hypoperistalsis Syndrome. Hum Mol Genet. 2016 Feb 1;25(3):571-83. doi: 10.1093/hmg/ddv497. ... S, Tekin M. De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis. Hum Genet. ...