. Author manuscript; available in PMC: 2018 Nov 1.

Published in final edited form as: Neuromuscul Disord. 2017 Jun 16;27(11):997–1008. doi: 10.1016/j.nmd.2017.06.004

Table-2.

Mutations included in the molecular diagnostic algorithm, and their corresponding details, including their occurrence in the study group (n=67) and families (n=33), number of patients/groups and their allelic state.

Diagnostic algorithm mutation placement			Total number of patients (%)/family (%)	Groups			Number of Homozygote/Heterozygote (Presence of rhabdomyolysis)
Diagnostic algorithm mutation placement			Total number of patients (%)/family (%)	I	II	III
1	SL	p.Met1Val	27 (40.3)/11 (33.3)	13	10	4	22/5 (+)
2	SG1	p.Arg576^*	6 (8.9)/4 (12.1)	5	–	1	4/2 (+)
3	SR1	c.1827+7A>G	5 (7.5)/4 (12.1)	4	1	–	3/2 (+)
4	SD	c.772+2_3delTG	5 (7.5)/3 (9)	3	1	1	3/2^* (+)
5	CD	p.Phe710del	4 (5.9)/2 (6)	2	1	1	4/0 (+)
6	FS1	p.Lys754Asnfs	2 (2.9)/1 (3)	2	–	–	2/0 (−)
7	SG2	p.Arg50^*	1 (1.5)/1 (3)	1	–	–	1/0 (−)

Group I, proband(s) clinically evaluated and diagnosed confirmed by muscle biopsy; Group II, relative of proband, clinically affected without by muscle biopsy; Group III, relative of proband, without clinical examination or a muscle biopsy.

Two siblings compound heterozygote with p.Met1Val, which are also included in the p.Met1Val row.