Table 1 Loss of calpain‐3 autolytic activity in patients with LGMD2A.

Pt no, sex	Clinical phenotype	Nucleotide change	Amino acid change, zygosity	Exon
1, M	Early‐onset LGMD	1469G→A	R490Q, homozygote	11
2, M	LGMD	1469G→A	R490Q, homozygote	11
3, M	High CK at 11 years	1469G→A	R490Q, heterozygote	11
		1466G→A	R489Q, heterozygote	11
4, M	Early‐onset LGMD	1486G→A	G496R, heterozygote	11
		984C→T	C328X, heterozygote	7
5, M	LGMD	1468C→T	R490W, heterozygote	11
6, F	Erb	1469G→A	R490Q, homozygote	11
7, M	Late‐onset Erb	1469G→A	R490Q, homozygote	11
8, M	LGMD	1469G→A	R490Q, heterozygote	11
		550delA	T184fsX219, heterozygote	4
9, F	Late‐onset LGMD	1984G→T	A662S, heterozygote	17
10, M	Early‐onset LGMD	550delA	T184fsX219, heterozygote	4
		1468C→T	R490W, heterozygote	11
11, F	LGMD	575C→T	T192I, heterozygote	4
		1611C→A	Y537X, heterozygote	13
12, F	Late‐onset LGMD	1486G→A	G496R, heterozygote	11
13, F	Early‐onset LGMD	328C→T	R110X, heterozygote	2
		664G→A	G222R, heterozygote	5
14, F	Late‐onset LGMD	1469G→A	R490Q, homozygote	11
15, F	Early‐onset LGMD	1468C→T	R490W, heterozygote	11
		2242C→T	R748X, heterozygote	21

CK, creatine kinase; F, female; LGMD, limb girdle muscular dystrophy; M, male.