| 1 | LGMD1B, LMNA
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| De novo LMNA mutations cause a new form of congenital muscular dystrophy.
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| Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B.
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| Ann Neurol 64(2):177-86.
2008
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| 2 | 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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| 3 | 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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| 4 | 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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| 5 | LGMD1B, LMNA
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| [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations]
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| Ben Yaou R, Becane HM, Demay L, Laforet P, Hannequin D, Bohu PA, Drouin-Garraud V, Ferrer X, Mussini JM, Ollagnon E, Petiot P, Penisson-Besnier I, Streichenberger N, Toutain A, Richard P, Eymard B, Bonne G.
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| Rev Neurol (Paris) 161(1):42-54. French. 2005
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| 6 | 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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| 7 | LGMD1B, LMNA
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| Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.
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| Charniot JC, Pascal C, Bouchier C, Sebillon P, Salama J, Duboscq-Bidot L, Peuchmaurd M, Desnos M, Artigou JY, Komajda M.
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| Hum Mutat 21(5):473-81. 2003
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| 8 | LGMD1B, LMNA
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| Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene.
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| Muchir A, van Engelen BG, Lammens M, Mislow JM, McNally E, Schwartz K, Bonne G.
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| Exp Cell Res 291(2):352-62. 2003
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| 9 | LMNA, EMD2, LGMD1B
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| Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.
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| Ki CS, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW.
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| J Hum Genet 47(5):225-8. 2002
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| 10 | LGMD1B
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| Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
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| Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K.
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| Hum Mol Genet 9(9):1453-9. 2000
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| 11 | CMD1A, EMD2, FPLD2, LGMD1B, LMNA
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| Mutations in the LMNA gene encoding lamin A/C.
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| Genschel J, Schmidt HH.
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| Hum Mutat 16(6):451-9. 2000
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| 12 | LGMD1B, CMD1F, LGMD2A, LGMD2B, LGMD2G, LGMD2H
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| The limb-girdle muscular dystrophies-multiple genes, multiple mechanisms.
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| Bushby KM.
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| Hum Mol Genet 8(10 REVIEW ISSUE):1875-82 1999
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| 13 | LGMD1B
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| Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.
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| Van der Kooi AJ, et al.
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| Am J Hum Genet 60 : 891-895. 1997
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