Table IV.

Review of the literature. LGMD patients with LAMA2 gene mutations described in literature: clinical and molecular characteristics.

Bioptical and molecular aspects
Pt	Merosin ICH 300/80 kDa	Merosin WB	Molecular analysis	Ref
1	Severe / mild reduction	NA	Linkage analysis	[16]
2	Partial / partial reduction	Severe reduction	c.4405T > C (p.Cys1469Arg); c.4645C > T (p.Arg1549X)	[17,29]
3.1	Moderate / moderate reduction	Partial reduction	c.2230C > T (p.Arg744X + skipping of exon 15) in homozygosis	[18,33]
3.2	Slight / slight reduction	Partial reduction	c.2230C > T (p.Arg744X + skipping of exon 15) in homozygosis	[18,33]
4	Absent / absent	Absent	NA	[32]
5	Moderate / moderate reduction	NA	c.1847G > A (p.Gly600Arg) in homozygosis	[31]
6	Severe / mild reduction	50% reduction	c.850G > A homozygous (p.Gly284Arg)	[6]
7.1	Severe / mild reduction	65% reduction	c.728T > C (p.Leu243Pro); c.4860+2T > G_4860+3insGCC (p.Phe1573_Lys1620delinsSerfsX49)	[6]
7.2	ND	ND	c.728T > C (p.Leu243Pro); c.4860+2T > G_4860+3insGCC (p.Phe1573_Lys1620delinsSerfsX49)	[6]
8	ND / mild reduction	50% reduction	c.397-1_397-15del (p.Val133_Gln135delinsArgX5); c.7431A > T (p.Arg2477Ser)	[6]
9	NA	Absent	c.454T > G homozygous (p.Trp152Gly)	[6]
10.1	Mild reduction / normal	NA	c.2749+1G > A (Spl?); c.1177T > G (p.Cys393Gly)	[7]
10.2	NA	NA	c.2749+1G > A (Spl?); c.1177T > G (p.Cys393Gly)	[7]
11	Subtle / subtle reduction	Normal	c.391C > T (p.Gln131X); c.4487C > T (p.Ala496Val); (associated c.595T > A p.Cys199Ser exon 4)	[19]
12	Residual / NA	1/3 residual	NA	[8]
13	Residual /NA	Absent	c.3758T > GT (?) (p.Leu1253Arg); c.35T > G (p.Leu12Arg)	[8]
14	Residual / NA	1/3 residual	NA	[8]
15.1	NA / normal	NA	c.1358G > C (p.Cys453Ser); deletion exon 36-65	[21]
15.2	NA	NA	c.1358G > C (p.Cys453Ser); deletion exon 36-65	[21]
16.1	NA	NA	c.4533delT (p.Gly1512fsX); c.611C > T (p.Ser204Phe)	[20]
16.2	NA	NA	c.4533delT (p.Gly1512fsX); c.611C > T (p.Ser204Phe)	[20]