Pedigree | patient | Clincal phenotype | Pathogenic mutation | Reference |
---|---|---|---|---|
Family 1 | Two siblings (Female/Male) | Axial hypotonia, limb hypertonia, psychomotor delay, high levels of blood lactate, both died a few months after birth of a metabolic crisis | NM_025150.4:c.845C> T(p.Pro282Leu), Maternal / NM_025150.4:c.695 + 3A > G, Paternal | [12] |
Family 2 | Not available | Hypotonia, cerebellar atrophy, psychomotor delay, and increased blood‐lactate | Not available | [20] |
Family 3 | Male | Limb hypertonia, epilepsy, psychomotor delay, and high levels of blood lactate | NM_025150.4:c.470C > (p. Thr157Arg), Maternal / c.2143G > A p. Glu715Lys, Paternal | [This Study] |