Table 2.

Genetic data of MC patients.

Patient ID	Current age in years	Gender	Inheritance	Relationship	Exon/Intron position	DNA change	Protein
N1	69	M	AD	Father of N2	ex 1 + ex 22/int 10	c. 86A > C + c.2551G > A in cis/c.1167-10T > C	p. His29Pro + p. Val851Met in cis /?
N2	42	F	AD	Daughter of N1	ex 1 + ex 22/int 10	c. 86A > C + c.2551G > A in cis/c.1167-10T > C	p. His29Pro + p. Val851Met in cis /?
N3	25	F	AR	Niece of N1 and sister of N4	ex 4/int. 10	c.501C > G/c. 1167-10T > C	p.Phe167Leu/?
N4	28	M	AR	Nephew of N1 and brother of N3	ex 4/int. 10	c.501C > G/c. 1167-10T > C	p.Phe167Leu/?
N5	78	F	AD	Mother of N6	ex 7/ex 8 + int 18	c. 817G > A/c.899G > A + c.2284+5C > T in cis	p.Val273Met/p.Arg300Gln + ?
N6	36	M	AD	Son of N5	ex 7	c.817G > A heterozygous	p.Val273Met
N7	24	M	AR	Brother of N8	ex 15	c.1785G > A homozygous	p.Trp595*
N8	30	F	AR	Sister of N7	ex 15	c.1785G > A homozygous	p.Trp595*
N9	19	F	AR	Sister of N10	int 2/ex 5	c.302-1G > A/c.568-569GG > TC	?/p. Gly190Ser
N10	17	M	AR	Brother of N9	int 2/ex 5	c.302-1G > A/c.568-569GG > TC	?/p. Gly190Ser
N11	70	M	AD	Father of N12	ex 3 + ex 4	c.313C > T + c.501C > G in cis	p.Arg105Cys + p.Phe167Leu in cis
N12	47	M	AD	Son of N11	ex 3 + ex 4	c.313C > T + c.501C > G in cis	p.Arg105Cys + p.Phe167Leu in cis
N13	27	M	AR	2 siblings affected	int 2/ex 7	c.302-1G > A/c.826G > A	?/p.Gly276Ser
N14	53	M	AR		ex 7	c.817G > A homozygous	p.Val273Met
N15	32	M	AR		int 1/ex 21	c.180+3A > T/c.2495C > T	p.THr832Ile
N16	33	F	AR		ex 13	c.1403T > C homozygous	p. Phe468Ser
N17	39	F	AD	De novo mutation	ex 22	c.2551G > A heterozygous	p. Val851Met
N18	17	F	AR		ex 1 /ex 7	c.86A > C/c.817G > A	p.His29Pro/p.Val273Met
N19	42	F	AR		ex 21	c.2423C > T homozygous	p.Gln812*

^*indicates stop codon point mutation.