Table 1.

Known mutations in PCFT in association with HFM.

Kindred (-patient)	Nucleotidechange	Amino acid change	Mutation type	Exon	Ref.
1–1/2	c.1082–1 G>A	p.Tyr362_Gly389 del	Splice site	Intron 2	[3,8]
2	c.194delG	p.Gly65AlafsX25	Frameshift	1	[4]
3	c.337 C>A	p.Arg113Ser	Missense	2	[4]
4	c.439 G>C	p.Gly147Arg	Missense	2	[4]
5	c.1274 C>G	p.Pro425Arg	Missense	4	[4]
6	c.954 C>G;	p.Ser318Arg;	Missense	2;	[4]
	c.1126 C>T	p.Arg376Trp	Missense	3
7	c.337 C>T	p.Arg113Cys	Missense	2	[6]
8	c.197_198 GC>AA	p.Cys66X	Nonsense	1	[7]
9–1/4	c.194dupG	p.Cys66LeufsX99	Frameshift	1	Current study

Modified from Zhao et al. [4]; Ref. = References.