Citations for
1LMNA, EMD2 , LGMD1B , CMD1A , CMT2B1 , FPLD2 , MADYS1 , PRO1 , WRN2 , RDMP2 , LDHCP , EMD3 , MCPRS
The laminopathies: a clinical review.
Rankin J, Ellard S.
Clin Genet 70(4):261-74. 2006
2LMNA, EMD2, EMD3, LGMD1B, CMD1A, CMT2B1, FPLD2, MADYS1, PRO1, WRN2, RDMP2 , LDHCP, MCPRS
Human laminopathies: nuclei gone genetically awry.
Capell BC, Collins FS.
Nat Rev Genet 7(12):940-52. 2006
3LMNA, LDHCP
Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C.
Wong SP, Huda M, English P, Bargiotta A, Wilding JP, Johnson A, Corrall R, Pinkney JH.
Diabetologia 48(12):2641-9. Epub 2005 Nov 17. 2005
4LMNA, LDHCP
A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.
Caux F, Dubosclard E, Lascols O, Buendia B, Chazouilleres O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S.
J Clin Endocrinol Metab 88(3):1006-13. 2003
5LDHCP, LMNA
Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.
Vigouroux C, Auclair M, Dubosclard E, Pouchelet M, Capeau J, Courvalin JC, Buendia B.
J Cell Sci 114(Pt 24):4459-68. 2001