Table 2.
Clinical Characteristics of Subjects III-3, III-4, III-6, and III-13 with Homozygous c.42+1G → C Splice Donor Site Mutations in NDUFA4
| Clinical Manifestations | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Subject | Age (years) | Clinical Phenotype | DD | FTT | LD | Dystonia | Myoclonus | Ataxia | UMN Signs | Seizures |
| III-3 | 32 | CLA, LS | L | + | + | + | − | − | − | − |
| III-4 | 34 | CLA, LS | L, M | − | + | + | + | + | + | + |
| III-6 | Died 26 | CLA, LS | L | − | + | − | − | − | − | − |
| III-13 | Died 8 | CLA, LS | L, M | + | + | + | − | + | + | − |
CLA, congenital lactic acidosis; DD, developmental delay; FTT, failure to thrive; L, language; LD, learning difficulties; LS, Leigh syndrome; M, motor; UMN, upper motor neuron. +, present; −, absent.