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A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy.
Neuromuscul Disord. 2019 Sep;29(9):693-697. doi: 10.1016/j.nmd.2019.08.005. Epub 2019 Aug 21.
Neuromuscul Disord. 2019.
PMID: 31488384
Free article.
A new diagnostic assay for glycogen storage disease type II in mixed leukocytes.
Okumiya T, Keulemans JL, Kroos MA, Van der Beek NM, Boer MA, Takeuchi H, Van Diggelen OP, Reuser AJ.
Okumiya T, et al. Among authors: van der beek nm.
Mol Genet Metab. 2006 May;88(1):22-8. doi: 10.1016/j.ymgme.2005.10.016. Epub 2005 Dec 15.
Mol Genet Metab. 2006.
PMID: 16359900
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