Table 1.

Clinical features of our patient compared with those in the literature

Clinical symptom	Proband	Literature (Nishino et al. 2001)
Cachexia	+	+
Gastrointestinal manifestations	+	+
Borborygmi	+	+
Abdominal pain	+	+
Diarrhoea	+	+
Diverticulosis	+	+
Pseudo-obstruction	+	+
Neurological manifestations	+	+
Ptosis	+	+
Ophthalmoplegia	+	+
Peripheral neuropathy	+	+
Hearing loss	+	+
Depression	+	Unknown