Table 1

Summary of mutations in the CAV-3 gene

Mutation	Location	Base pair variation	Nucleotide position	Phenotypes	Reference
bp, base pair; FHCK, familial hyperCKaemia; IHCK, isolated hyperCKaemia; LGMD, limb girdle muscular dystrophy; RMD, rippling muscle disease.
R26Q	EXON 1	G→A	77	IHCK/RMD	7, 9
P28L	EXON 1	C→T	83	FHCK	Present report
A45T	EXON 2	G→A	133	LGMD 1C/RMD	8, 11
A45V	EXON 2	C→T	134	RMD	8
G55S	EXON 2	G→A	163	LGMD 1C	10
?TFT (63–65)	EXON 2	9 bp deletion	186–194	LGMD 1C	6
C71W	EXON 2	C→G	213	LGMD 1C	10
P104L	EXON 2	C→T	311	LGMD 1C/RMD	6, 8
R125H	EXON 2	G→A	374	LGMD 1C	12