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Table 1 Clinical presentation and disease course for the 13 patients with the latest disease onset (above 4.9 years)

From: A multicenter study on Leigh syndrome: disease course and predictors of survival

ID* Age of onset Clinical features at onset Exacerbations/relapses requiring hospitalisation Survival status Genetic etiology
84 5 y 1 m Hypotonia, mental retardation No Alive at 7 y 6 m Unknown
66 4 y 11 m Dystonia, spasticity, hyperreflexia No Alive at 33 y C20orf7
94 8 y1 m Dystonia, hypertonia No Alive at 18 y 10 m Unknown
95 18 y 8 m Gastrointestinal symptoms Yes Died at 19 y 6 m Unknown
15 6 y 7 m Hypotonia, ophthalmoplegia, fatigue No Alive at 14 y 7 m MT-ATP6
99 5 y 9 m Hypotonia, pos Babinski sign, ophthalmoplegia Yes Alive at 33 y Unknown
103 6 y 5 m Dystonia, hypertonia, pos Babinski sign No Alive at 8 y 6 m Unknown
114 7 y Dystonia No Lost to follow-up at 10 y Unknown
118 7 y Gastrointestinal symptoms No Alive at 12 y 5 m Unknown
5 6 y Discoordination No Alive at 19 y 8 m MT-ND3
124 10 y 5 m Hypo-hypertonia, dystonia, hypokinesia, dysarthria, hyperreflexia, sucking dysfunction, bradyphrenia Yes Alive at 20 y 8 m Unknown
127 8 y 2 m Hypertonia, hyperreflexia No Alive at 14 y Unknown
25 19 y Spasticity, hemiparesis No Alive at 58 y MT-ATP6
  1. *The ID numbers correspond to the ID numbers of the respective patients on Table 4.
  2. Y years; m months.
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