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Expanding the clinical spectrum of POMT1 phenotype.
D'Amico A, Tessa A, Bruno C, Petrini S, Biancheri R, Pane M, Pedemonte M, Ricci E, Falace A, Rossi A, Mercuri E, Santorelli FM, Bertini E. D'Amico A, et al. Neurology. 2006 May 23;66(10):1564-7; discussion 1461. doi: 10.1212/01.wnl.0000216145.66476.36. Neurology. 2006. PMID: 16717220
POMT2 mutation in a patient with 'MEB-like' phenotype.
Mercuri E, D'Amico A, Tessa A, Berardinelli A, Pane M, Messina S, van Reeuwijk J, Bertini E, Muntoni F, Santorelli FM. Mercuri E, et al. Neuromuscul Disord. 2006 Jul;16(7):446-8. doi: 10.1016/j.nmd.2006.03.016. Epub 2006 May 15. Neuromuscul Disord. 2006. PMID: 16701995