| 1 | MYOT, MYTP
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| Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.
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| von Nandelstadh P, Soliymani R, Baumann M, Carpen O.
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| Biochem J 436(1):113-21.
2011
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| 2 | MYOT, MYTP
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| Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.
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| Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I.
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| J Neurol Neurosurg Psychiatry 79(2):205-8. Epub 2007 Aug 13.PMID: 17698502 2008
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| 3 | LGMD1A,MYOT,MYTP
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| Myotilinopathy: refining the clinical and myopathological phenotype.
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| Olive M, Goldfarb LG, Shatunov A, Fischer D, Ferrer I.
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| Brain 128(Pt 10):2315-26. Epub 2005 Jun 9. 2005
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| 4 | MYOT, LGMD1A, MYTP
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| Mutations in myotilin cause myofibrillar myopathy.
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| Selcen D, Engel AG.
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| Neurology 62(8):1363-71. Erratum in: Neurology. 2004 Jul 27;63(2):405. 2004
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