Mutations identified in SDHD and SDHB
| Gene | Family/subject | Mutation | |
|---|---|---|---|
| cDNA | Protein | ||
| SDHD | |||
| Family 1 | c.112C>T | R38X | |
| Family 27 | c.381-383delG | L128fsX134 | |
| Family SP52 | c.242C>T | P81L | |
| Family SP64 | c.325C>T | Q109X | |
| Subjects SP59 and SP77 | c.242C>T | P81L | |
| SDHB | |||
| Family 9 | c.392C>G | P131R | |
| Family 13 | c. 207–210insC | M71fsX80 | |
| Subject SP36 | c.174–175GC>TT | Q59X | |