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Table 1 Clinical, biochemical and molecular features of m.14459G > A mutated patients:

From: Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report

Reference Patient Sex Ethnic group Age Age of Onset Phenotype Clinical features Neuroradiology Residual CI activity m.14459G > A Mutational load (%)
Current Study A F Caucasian Haplogroup H2a2 18 m 2 m LS+Dystonia Psycomotor delay, hypotonia, dystonia. MRI: lesions in the basal ganglia and mesencephalum. 36% (muscle) > 99 (muscle) >99 (blood)
Shoffner et al. [5] B1-1 (proband) F African-American 19y 3 m LHON Loss of bilateral vision, optic atrophy MRI: lesions in caudate nucleus and right putamen 3% (muscle) >99
Shoffner et al. [5] B1-2 (proband's mother) F African-American 42y 42y LHON Loss of bilateral vision, optic atrophy NP NP 50
Shoffner et al. [5] B2 F Caucasian 13y 3y Dystonia Dysarthria, dystonia, quadriparesis CT: bilateral hipodensity in the putamina. MRI: bilateral lesions in putamen and caudate. NP 50
Funalot et al. [7] C2 M Caucasian Haplogroup T †32y suicide 18y LLS+LHON Bilateral visual failure, hearing loss, ataxia, extrapiramidal signs MRI: hyperintensity in dorsal midbrain; bilateral lesions in the third ventricle walls. NP 40
Gropman et al. [9] D1 (proband) F Hispanic 4y 3y Dystonia Anarthria, dystonia, spasticity, encefalopathy, neurofibromatosis MRI: bilateral hyperintensities of the putamen. MRS: elevated lactate. 76% (muscle) >99
Gropman et al. [9] D1-2 (proband's mother) F Hispanic 35y 34y   neurofibromatosis, muscle weakness MRI: bitemporal signal abnormalities NP >99
Gropman et al. [9] D1-3 (proband's brother) M Hispanic 7y 2y Dystonia neurofibromatosis, hemiparesis, cognitive delay MRI: right sided putaminal infarcts, thickened corpus callosum NP >99
Gropman et al. [9] D1-3 (maternal cousin) F Hispanic 5y 5y - Hemiparesis MRI: bilateral putaminal infarcts MRS: elevated lactate NP >99
Kirby et al. [6] E1-1 F ? †7y 9 m LS Motor delay, hypotonia, seizure, dystonia. CT: bilateral low density lesions of the basal ganglia 25% (fibroblasts) 97 (fibroblasts)
Kirby et al. [6] E1-2 (proband's brother) M ? †10 m 3 m LS Hypotonia, neurological and developmental regression, seizure. Metabolic acidosis. - 6% (muscle) 46% (liver) 97 (muscle, liver)
Kirby et al. [6] E2 F ? †8 m 6 m LS Developmental delay, athetosis, hypotonia. MRI: cerebral atrophy, involvement of basal ganglia and medial thalamic nuclei. 15% (fibroblasts) 16% (muscle) 37% (liver) 97 (muscle, liver)
Jun et al. [4] G1-1 (proband) F Hispanic (Native American). Haplogroup D 10y 2y Dystonia Dystonia, corticospinal tract dysfunction, dysarthria. CT: bilateral low density lesions in putamen progressing to the caudate - 99 (blood)
Jun et al. [4] G1-2 (proband's brother) M Hispanic (Native American). Haplogroup D 13y 13y Dystonia Dystonia, intellectual impairmeint. NP NP 99 (blood)
Jun et al. [4] G1-3 (proband's mother) F Hispanic (Native American). Haplogroup D 32y 32y LHON Bilateral optic atrophy. NP NP 73 (blood)
Jun et al. [4] G1-4 (maternal cousin) M Hispanic (Native American). Haplogroup D ? ? LHON - NP NP 99 (blood)
Jun et al. [4] G1-5 (maternal relative) M Hispanic (Native American). Haplogroup D ? 5y Dystonia Dystonia CT: abnormal basal ganglial lucencies NP 99 (blood)
Tarnopolsky et al. [8] E1-1 (proband) F Caucasian 45y 8y Dystonia Dystonia MRI: hiperintensities signal in putamen N 34 (blood)
Tarnopolsky et al. [8] E1-2 (proband's brother) M Caucasian 49y 19y LHON Visual loss, hearing loss NP NP 18 (blood)
Tarnopolsky et al. [8] E1-3 (proband's brother) M Caucasian 56y ? - Visual changes, hearing loss, muscle weakness. NP NP 21 (blood)
Tarnopolsky et al. [8] E1-4 (proband's mother) F Caucasian 78y 76y - Stroke episodes. CT: hipodensity in right frontal periventricular region NP 4 (blood)
Tarnopolsky et al. [8] E2 M Caucasian 17y 16y LHON Optic nerve pallor, visual loss. MRI: normal NP 26 (blood)
  1. NP: not performed; CI: Complex I,% values refer to activity compared to controls.