De Novo Mutation of m.3243A>G together with m.16093T>C Associated with Atypical Clinical Features in a Pedigree with MIDD Syndrome

Table 1

Novel mtDNA substitutions detected in F1957 by whole mtDNA sequencing.

Person	Sex	Age	m.3243A>G		m.16093T>C		Ratio^#
			Het%	Location	Het%	Location
F1957-II-1 (proband)	Female	60	6.22	MT-TL1	1.57	MT-CR	3.96
F1957-III-1	Male	31	32.28	MT-TL1	8.54	MT-CR	3.78
F1957-I-1	Female	80	—		—
F1957-I-2	Male	83	—		—
F1957-II-3	Female	57	—		—

Het: heteroplasmy; ^#ratio of m.3243A>G (Het%) to m.16093T>C (Het%).