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Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.
Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11.
Brain. 2013.
PMID: 23404334
Free PMC article.
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bönnemann CG, Roberts M, Lochmüller H, Bushby K, Straub V.
Hicks D, et al. Among authors: farsani gt.
Hum Mol Genet. 2014 May 1;23(9):2353-63. doi: 10.1093/hmg/ddt637. Epub 2013 Dec 13.
Hum Mol Genet. 2014.
PMID: 24334769
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