| 1 | IBM3, MYH2, MYO2
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| Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.
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| Tajsharghi H, Hilton-Jones D, Raheem O, Saukkonen AM, Oldfors A, Udd B.
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| Brain 133(Pt 5):1451-9.PMID: 20418530 2010
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| 2 | FSS, IBM3, MMS, MPD1, MYH2, MYH3, MYH7, MYH8, SHHS, TPCS
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| Thick filament diseases.
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| Oldfors A, Lamont PJ.
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| Adv Exp Med Biol 642:78-91. Review.PMID: 19181095 2008
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| 3 | MYH2, IBM3
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| Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).
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| Tajsharghi H, Darin N, Rekabdar E, Kyllerman M, Wahlstrom J, Martinsson T, Oldfors A.
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| Eur J Hum Genet 13(5):617-22. 2005
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| 4 | IBM3, MYH2
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| Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age.
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| Tajsharghi H, Thornell LE, Darin N, Martinsson T, Kyllerman M, Wahlstrom J, Oldfors A.
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| Neurology 58(5):780-6. 2002
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| 5 | IBM3, MYH2
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| Autosomal dominant myopathy: missense mutation (Glu-706 right-arrow lys) in the myosin heavy chain IIa gene
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| Martinsson T, Oldfors A, Darin N, Berg K, Tajsharghi H, Kyllerman M, Wahlstrom J.
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| Proc Natl Acad Sci U S A 97(26):14614-9. 2000
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| 6 | IBM3
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| Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1.
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| Martinsson T, Darin N, Kyllerman M, Oldfors A, Hallberg B, Wahlstrom J.
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| Am J Hum Genet 64(5):1420-6. 1999
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