Table 1. Table 1. Genotypic and phenotypic characterisation of investigated individuals.

	Code	Sex	Age of onset (yr)	Age (yr)	Mutation	Zygosity	Clinical status
Mutants	B11	M	64	79	delEx7+c.1072delT	compound heterozygous	affected
	B125	M	43	62	c.1072delT	homozygous	affected
	B300	F	34	49	delEx7	homozygous	affected
	L3035	M	31	49	delEx3-4+duplEx7-12	compound heterozygous	affected
	L3048	M	15	57	delEx4+c.924C>T	compound heterozygous	affected
	L3244	F	37	41	delEx1+c.924C>T	compound heterozygous	affected
∅ ± STD			37.3±16.1	56.2±13.3
Controls	802.1	F	n/a	60	none	n/a	unaffected
	902.1	F	n/a	68	none	n/a	unaffected
	B963	M	n/a	44	none	n/a	unaffected
	B964	M	n/a	44	none	n/a	unaffected
	L3293	M	n/a	43	none	n/a	unaffected
∅ ± STD				51.8±11.5