Case | 1 | 2 | 3 | 4 |
---|
Age at diagnosis | 61 | 42 | 32 | In-Utero |
Other family Members affected | Mother | Mother | Mother | Mother and grandmother |
ALAS2 mutation | R163H | R227C | Y365C | R163H |
Pyridoxine responsive | No | No | Not known | No |
Skewed X-inactivation | No | Not known | Not known | No |
References | [15] | [9] | [12] | |