Table 2

Distribution of the mutations by sex and group

		Group A	Group B	Group C	Group D	Group P	Total
*Homozygous; †compound heterozygous; ‡heterozygous.
Groups: (A) severe limb girdle muscular dystrophy (LGMD) characterised by serious weakness and wheelchair requirement before the age of 35; (B) intermediate LGMD with weakness and difficulty in deambulation, but the ability to walk alone beyond the age of 35; (C) mild with symmetrical scapular winging and hyperCKaemia; (D) isolated hyperCKaemia; and (P) presymptomatic, including patients too young to be classified by clinical criteria but with suggestive laboratory findings.
Male	HO*	11	6	3	0	1	21
	CHE†	19	9	5	3	0	36
	HE‡	3	2	12	7	3	27
	Total mutated	33	17	20	10	4	84
	Total studied	81	64	138	71	10	364

Female	HO*	9	9	3	0	0	21
	CHE†	7	14	4	0	1	26
	HE‡	0	4	2	1	2	9
	Total mutated	16	27	9	1	3	57
	Total studied	42	78	20	16	10	166

Total	HO*	20	15	6	0	1	42
	CHE†	26	23	9	3	1	62
	HE‡	3	6	14	8	6	37
	Total mutated	49	44	29	11	8	141
	Total studied	123	142	158	87	20	530