Table 1.

Summary of patients with Danon disease in Japan.

Family	Site of LAMP-2 Mutation	LAMP-2 Mutation	Effect on mRNA	Affected Males	Affected Females	References
1	E9b	c.1097_1098 delAA	Frame shift	proband, 1 cousin	mother, 1 sister	[2]
2	E4	c.440 T > A	Stop codon	proband	-	[2]
3	I6	c.865-1 G > C	Splicing	proband	mother	[2]
4	I5	c.741+1G>A	Stop codon	proband	-	[2]
5	I5	c.742-4_742+6 delGAAGGTTGCT	Splicing	proband	mother	[2,8]
6	E7	c.883_884 insT	Frame shift	proband	1 sister	[2,10]
7	E3	c.288_289 delAG	Stop codon	proband	mother, 1 aunt	[11]
8	E7	c.928 G>A	Splicing	proband	-	[12]
9	E5	c.573 delA	Frame shift	proband	mother, 2 sisters	[13]
10	E7	c.877 C>T	Stop codon	proband	mother, 1 sister	[14]
11	E3	c.371_372 delCA	Stop codon	proband	-	[15]
12	I6	c.864+1_864+4 delGTGA	Splicing	proband	2 sisters	[16]
13	E6	c.749C>A	Stop codon	-	proband	[9]
14	E7	c.877C>T	Stop codon	proband	mother	[17]
15	E1	c.56T>C	Frame shift	proband	mother	[18]
16	E8	c.1009_1010delGT	Frame shift	proband	mother	[19]
17	NA	NA	NA	proband	mother	[20]
18	E8	c.973_974insC	Frame shift	-	proband	[21]
19	E4	c.422T>A	Stop codon	-	proband	[22]
20	E6	c.839delA	Stop codon	-	proband	[17]

E, exon; I, intron; NA, not available.