Table 1 Characteristics of SCL patients and respective gene mutations.
Patient | P1 | P2 | P3 | P4 | P5 | P6 | P7 |
|---|---|---|---|---|---|---|---|
Gender | M | M | F | M | F | M | F |
Age at disease onset | 5 mo | 6 mo | 2 mo | 5 mo | 5 mo | 2 mo | 12 mo |
Proteomics analysis | + | + | + | ||||
Metabolomics analysis | + | + | + | + | + | + | + |
Nucleotide change | c.998A > G | c.998A > G/13q14 deletion (1.54 Mb) | c. 534 + 1G > A | c.1219C > T | |||
Amino acid change | Asp333Gly | Asp333Gly/13q14 deletion | Splice site mutation, skipping of exon 4 | Arg407Trp | |||
OXPHOS defect | Normal (muscle, histochemistry and biochemical analysis) | Partial deficiency of CI + CIII (muscle, biochemical analysis) | Slight decrease of CI, CIII and CIV (muscle, SHS immunoblot); normal/slight decrease of CIV (fibroblasts, SHS immunoblot) | Normal (muscle, histology, EM and OXPHOS analysis) | |||
References | This report | ||||||
