Table 1.

Genetics of the present MFM patient cohort.

Patient no.	Gene	Chromosome	Exon	Transcript no.	Nucleotide	Protein	Reference
1	DES	2	7	NM_1927	c.1256C>T	p.Pro419Leu	None
2	DES	2	7	NM_1927	c.1256C>T	p.Pro419Leu	None
3	DES	2	7	NM_1927	c.1256C>T	p.Pro419Leu	None
4	DES	2	7	NM_1927	c.1256C>T	p.Pro419Leu	None
5	DES	2	6	NM_1927	c.1096_1098delACA	p.Asn366del	(14)
6	DES	2	6	NM_1927	c.1096_1098delACA	p.Asn366del	(14)
7	DES	2	6	NM_1927	c.1096_1098delACA	p.Asn366del	(14)
8	DES	2	6	NM_1927	c.1076_1077ins GGCCAGTGG	p.Glu359delins GluAlaSerGly	None
9	BAG3	10	3	NM_004281	c.626C>T	p.Pro209Leu	(15)
10	BAG3	10	3	NM_004281	c.626C>T	p.Pro209Leu	(15)
11	FLNC	7	36	NM_001458	c.6004+3G>A	splicing	None
12	FLNC	7	33	NM_001458	c.5468C>T	P.Thr1823Met	None
13	FHL1	X	5	NM_001159702	c.386G>A	p.Cys129Tyr	None
14	TTN	2	344	NM_001267550	c.95134T>C	p.Cys31712Arg	(16–22)
15	TTN	2	344	NM_001267550	c.95185T>C	p.Trp31729Arg	(23)
16	TTN	2	69	NM_001267550	c. 19993G>T	p.Glu6665X	None
			363	NM_001267550	c. 107545delG	p.Ala35849Glnfs*16	None
17	TTN	2	69	NM_001267550	c. 19993G>T	p.Glu6665X	None
			363	NM_001267550	c. 107545delG	p.Ala35849Glnfs*16	None
18	None	-	-	-	-	-	-