Table 1 Clinical presentation and disease-causing variants identified in patients with MDs
Patient no./sex | Family history | Age of onset/age of last follow-up | Initial presentation | Muscular | CNS | Heart | Vision | Hearing | Neuro-imaging | MDC score (pre-biopsy) | Gene | Variant | Disease association |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1/M | − | Day 1/8 moa | Non-syndromic | + | + | + | − | + | + | 8, definite | COQ4 | c.370G>A, p.(Gly124Ser), and c.402+1G>C | Coenzyme Q10 deficiency, primary, 7 |
2/F | − | Infancy/4 yo | Non-syndromic | − | + | − | − | − | + | 6, probable | COQ4 | c.371G>T, p.(Gly124Val), and c.370G>A, p.(Gly124Ser) | Coenzyme Q10 deficiency, primary, 7 |
3/M | − | Infancy/3 yo | Non-syndromic | − | + | − | − | − | + | 6, probable | COQ4 | c.402+1G>A and c.550T>C, p.(Trp184Arg) | Coenzyme Q10 deficiency, primary, 7 |
4/F | − | Birth/3 yoa | Non-syndromic | − | + | − | − | + | + | 8, definite | COQ4 | c.370G>A, p.(Gly124Ser) homozygous | Coenzyme Q10 deficiency, primary, 7 |
5/M | − | Birth/1 yoa | Non-syndromic | − | + | − | − | + | + | 8, definite | COQ7 | c.319C>T, p.(Arg107Trp), and c.599_600delinsTA ATGCATC, p.(Lys200Ilefs*56) | Coenzyme Q10 deficiency, primary, 8 |
6/F | − | Infancy/24 yo | Syndromic | − | + | − | − | − | + | 8, definite | SURF1 | c.792_793del, p.(Arg264Serfs*27), and c.529del, p.(Val177*) | Leigh syndrome, due to COX IV deficiency; Charcot–Marie–Tooth disease, type 4 K |
7/M | − | 8 yo/43 yo | Non-syndromic | − | + | − | − | − | + | 5, probable | NDUFA9 | c.1078C>T, p.(Arg360Cys) homozygous | Mitochondrial complex I deficiency, nuclear type 26 |
8/M | + (sibling of patient 9) | Neonatal/18 yo | Syndromic | + | − | + | − | − | + | 7, probable | TAZ | c.718G>C, p.(Gly240Arg) hemizygous | Barth syndrome |
9/M | + (sibling of patient 8) | 5 months/9 yo | Syndromic | − | + | + | − | − | − | 4, possible | TAZ | c.718G>C, p.(Gly240Arg) hemizygous | Barth syndrome |
10/M | − | 4 yo/8 yo | Syndromic | − | − | − | − | − | + | 3, possible | OPA1 | c.1218delC, p.(Glu408Lysfs*7) | Optic atrophy 1; optic atrophy plus syndrome |
11/M | − | Infancy/7 yo | Non-syndromic | − | + | − | − | − | + | 6, probable | OPA1 | c.2345A>G, p.(His782Arg) | Optic atrophy 1; optic atrophy plus syndrome |