| 1 | DNAJB6, LGMD1D
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| A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function.
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| Tsai PC, Tsai YS, Soong BW, Huang YH, Wu HT, Chen YH, Lin KP, Liao YC, Lee YC.
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| Clin Genet 92(2):150-157. doi: 10.1111/cge.13001. Epub 2017 Apr 12.
2017
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| 2 | DNAJB6, LGMD1D
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| A novel mutation in DNAJB6, p.(Phe91Leu), in childhood-onset LGMD1D with a severe phenotype.
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| Nam TS, Li W, Heo SH, Lee KH, Cho A, Shin JH, Kim YO, Chae JH, Kim DS, Kim MK, Choi SY.
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| Neuromuscul Disord 25(11):843-51. doi: 10.1016/j.nmd.2015.08.002. Epub 2015 Aug 11.
2015
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| 3 | DNAJB6, LGMD1D
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| 'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.
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| Sandell SM, Mahjneh I, Palmio J, Tasca G, Ricci E, Udd BA.
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| Eur J Neurol 20(12):1553-9. doi: 10.1111/ene.12239. Epub 2013 Jul 19.
2013
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| 4 | DNAJB6, LGMD1D
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| DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions.
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| Sato T, Hayashi YK, Oya Y, Kondo T, Sugie K, Kaneda D, Houzen H, Yabe I, Sasaki H, Noguchi S, Nonaka I, Osawa M, Nishino I.
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| Neuromuscul Disord 23(3):269-76. doi: 10.1016/j.nmd.2012.12.010. Epub 2013 Feb 6.
2013
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| 5 | DNAJB6, LGMD1D
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| Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
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| Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH.
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| Ann Neurol 71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14.
2012
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| 6 | LGMD1D
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| Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus.
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| Hackman P, Sandell S, Sarparanta J, Luque H, Huovinen S, Palmio J, Paetau A, Kalimo H, Mahjneh I, Udd B.
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| Neuromuscul Disord 21(5):338-44. Epub 2011 Mar 3.
2011
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| 7 | CMD1F, LGMD1D
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| Identification of a new autosomal dominant limb-girdle muscular dystrophy locus on chromosome 7.
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| Speer MC, Vance JM, Grubber JM, Lennon Graham F, Stajich JM, Viles KD, Rogala A, McMichael R, Chutkow J, Goldsmith C, Tim RW, Pericak-Vance MA.
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| Am J Hum Genet 64(2):556-62. 1999
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| 8 | LGMD1A, LGMD1D
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| Evidence for locus heterogeneity in autosomal dominant limb-girdle muscular dystrophy.
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| Speer MC, Gilchrist JM, Chutkow JG, McMichael R, Westbrook CA, Stajich JM, Jorgenson EM, Gaskell PC, Rosi BL, Ramesar R, et al.
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| Am J Hum Genet 57 : 1371-1376. 1995
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