- progressive external opthalmoplegia
- pigmentary degeneration of retina
- heart block
It may also cause proximal muscle weakness, ptosis and ataxia.
Symptoms must begin before the age of 20.
If part 2 asks what investigation you want to do, the correct answer is muscle biopsy looking for ragged red fibres.
Onwards for another brief eponymous syndrome, Klinefelters..
