| 1 | LGMD2J, TMDT, TTN
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| Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
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| Udd B, Vihola A, Sarparanta J, Richard I, Hackman P.
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| Neurology 64(4):636-42. 2005
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| 2 | CMD1G, CMH9, TMDT, TTN
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| The Muscular Dystrophy with Myositis (mdm) Mouse Mutation Disrupts a Skeletal Muscle-Specific Domain of Titin.
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| Garvey SM, Rajan C, Lerner AP, Frankel WN, Cox GA.
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| Genomics 79(2):146-9. 2002
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| 3 | TMDT, TTN
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| Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.
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| Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B.
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| Am J Hum Genet 71(3):492-500. Epub 2002 Jul 26. 2002
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| 4 | TMDT, TTN
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| Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene.
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| Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B.
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| Neurology 56(7):869-77. 2001
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| 5 | TMDT
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| Autosomal dominant distal myopathy not linked to the known distal myopathy loci.
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| Felice KJ, Meredith C, Binz N, Butler A, Jacob R, Akkari P, Hallmayer J, Laing N.
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| Neuromuscul Disord 9(2):59-65.
1999
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| 6 | TMDT
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| Assignment of the tibial muscular dystrophy locus to chromosome 2q31.
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| Haravuori H, et al.
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| Am J Hum Genet 62 : 620-626. 1998
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