Table 1

LMNA mutations reported in this study

Protein	CDNA	Gene location	Phenotype	Patients	References
R377H	1130G→T	Exon 6	LGMD 1B	Patient 1	Unpublished
R190Q and R249Q	569G→A	Exon 4-exon 2	EDMD2	Patient 2	Unpublished
	746G→A
I63N	188T→A	Exon 1	EDMD2	Patient 3	Boriani et al, 2003³⁵
L140P	419T→C	Exon 2	EDMD2	Patient 4	Boriani et al, 2003³⁵
R527P	1580G→C	Exon 9	EDMD2	Patient 5	Bonne et al, 1999⁴