| 1 | EMD2, EMD3, LMNA
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| Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
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| Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS.
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| Hum Mutat 32(2):152-67. doi: 10.1002/humu.21361. Epub 2011 Jan 25. 2011
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| 2 | EMD2, EMD3, LMNA
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| Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations.
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| Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS.
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| Hum Mutat um Mutat. 2010 Sep 16. [Epub ahead of print]PMID: 20848652 2010
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| 3 | CMD1A, EMD2, EMD3, LMNA
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| Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.
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| Muchir A, Shan J, Bonne G, Lehnart SE, Worman HJ.
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| Hum Mol Genet 18(2):241-7. Epub 2008 Oct 16.
2009
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| 4 | EMD2, EMD3, LMNA
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| Expression of the myodystrophic R453W mutation of lamin A in C2C12 myoblasts causes promoter-specific and global epigenetic defects.
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| Håkelien AM, Delbarre E, Gaustad KG, Buendia B, Collas P.
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| Exp Cell Res 314(8):1869-80. Epub 2008 Mar 7.PMID: 18396274 2008
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| 5 | EMD2, EMD3, LGMD1B, LMNA
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| Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
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| Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC.
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| Neurology 69(12):1285-92. Epub 2007 Mar 21.PMID: 17377071 2007
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| 6 | LMNA, EMD2, EMD3
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| Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy.
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| Wang Y, Herron AJ, Worman HJ.
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| Hum Mol Genet 15(16):2479-89. Epub 2006 Jul 6. 2006
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| 7 | LMNA, EMD2 , LGMD1B , CMD1A , CMT2B1 , FPLD2 , MADYS1 , PRO1 , WRN2 , RDMP2 , LDHCP , EMD3 , MCPRS
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| The laminopathies: a clinical review.
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| Rankin J, Ellard S.
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| Clin Genet 70(4):261-74. 2006
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| 8 | LMNA, EMD2, EMD3, LGMD1B, CMD1A, CMT2B1, FPLD2, MADYS1, PRO1, WRN2, RDMP2 , LDHCP, MCPRS
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| Human laminopathies: nuclei gone genetically awry.
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| Capell BC, Collins FS.
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| Nat Rev Genet 7(12):940-52. 2006
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| 9 | LMNA, CMT2B1, EMD3, EMD2, LGMD1B
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| Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.
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| Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC.
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| J Neurol Neurosurg Psychiatry 76(7):1019-21. 2005
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| 10 | EMD2, EMD3, LMNA
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| Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
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| Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D.
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| Am J Hum Genet 66(4):1407-12. 2000
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| 11 | DYSF, EMD, EMD3
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| Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy.
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| Ognibene A, et al.
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| Muscle Nerve 22(7):864-9 1999
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| 12 | EMD3, EMD
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| Mutation analysis in Emery-Dreifuss muscular dystrophy.
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| Nevo Y, et al.
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| Pediatr Neurol 21(1):456-9 1999
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| 13 | EMD3, EMD
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| Emerin deletions occurring on both Xq28 inversion backgrounds.
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| Small K, Warren ST.
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| Hum Mol Genet 7(1):135-9. 1998
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| 14 | EMD, EMD2, EMD3
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| Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.
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| Bione S, Small K, Aksmanovic VM, D'Urso M, Ciccodicola A, Merlini L, Morandi L, Kress W, Yates JR, Warren ST, et al.
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| Hum Mol Genet 4(10):1859-63. 1995
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| 15 | DXS571, EMD3
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| Two dinucleotide repeat polymorphisms at the DXS571 locus.
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| Curtis ARJ, et al.
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| Hum Mol Genet 1 : 776. 1992
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