. 2012 Dec 12;21(8):871–875. doi: 10.1038/ejhg.2012.272

Table 2. Clinical manifestations of mutations in the mitochondrial tRNA^Trp.

Mutation	Clinical manifestation	Reference
5521G>A	Mitochondrial myopathy	Silvestri et al²³
5522G>A	Mitochondrial myopathy	This work
5523T>G	Leigh syndrome	Mkaouar-Rebai et al²⁴
5532G>A	Neurogastrointestinal syndrome	Maniura-Weber et al²⁵
5537insT	Leigh syndrome	Santorelli et al²⁶
5538G>A	Myoclonic epilepsy	Malfatti et al²⁷
5540G>A	Encephalomyopathy	Silvestri et al²⁸
5543T>C	Mitochondrial myopathy	Anitori et al²⁹
5545C>T	Encephalomyopathy	Sacconi et al³⁰
5549G>A	Dementia, chorea, deafness, ataxia	Nelson et al³¹
5556G>A	Encephalomyopathy	Smits et al³²
5556G>C	Encephalomyopathy	Sanaker et al³³
5559A>G	Leigh syndrome	Mkaouar-Rebai et al²⁴
5567T>C	Mitochondrial myopathy	Valente et al³⁴

Table 2. Clinical manifestations of mutations in the mitochondrial tRNATrp.