| 1 | AMCD1, SHHS2, TPM2
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| Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies.
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| Davidson AE, Siddiqui FM, Lopez MA, Lunt P, Carlson HA, Moore BE, Love S, Born DE, Roper H, Majumdar A, Jayadev S, Underhill HR, Smith CO, von der Hagen M, Hubner A, Jardine P, Merrison A, Curtis E, Cullup T, Jungbluth H, Cox MO, Winder TL, Abdel Salam H, Li JZ, Moore SA, Dowling JJ.
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| Brain 136(Pt 2):508-21. doi: 10.1093/brain/aws344.
2013
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| 2 | TPM2, AMCD1
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| Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation.
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| Tajsharghi H, Kimber E, Holmgren D, Tulinius M, Oldfors A.
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| Neurology 68(10):772-5. 2007
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| 3 | AMCD1, AMCD2B, TNNI2, TNNT3, TPM2
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| Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
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| Robinson P, Lipscomb S, Preston LC, Altin E, Watkins H, Ashley CC, Redwood CS.
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| FASEB J 21(3):896-905. Epub 2006 Dec 27.
2007
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| 4 | AMCD1, AMCD2B, TNNI2, TPM2
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| Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes
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| Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M.
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| Am J Hum Genet 72(3):681-90. 2003
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| 5 | AMCD1, IBM2, MHS1, PYGM
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| The preliminary transcript map of a human skeletal muscle.
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| Pallavicini A, Zimbello R, Tiso N, Muraro T, Rampoldi L, Bortoluzzi S, Valle G, Lanfranchi G, Danieli GA.
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| Hum Mol Genet 6(9):1445-50. 1997
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| 6 | AMCD1
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| A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9.
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| Bamshad M, et al.
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| Am J Hum Genet 55 : 1153-1158. 1994
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