mutation pathology references G5521A MM Silvestri G. et al. (1998

mutation pathology references G5521A MM Silvestri G. et al. (1998

tRNATrp
mutation
G5521A
A5532?
(Light)
pathology references
MM
NGI
Silvestri G. et al. (1998) Neuromuscular Disorders 8, 291-5.
Maniura-Weber K. et al. (2004) Eur. J. Hum. Genet. 12, 509Santorelli F. M. et al. (1997) Annals of Neurology 42, 256-60.
insT5537
MILS, LS
Tulinius M. et al. (2003) Neuropediatrics 34, 87-91.
G5540A
PEM, CD Silvestri G. et al. (2000) Neurology 54, 1693-6.
G5549A DEMCHO, D, Nelson I. et al. (1995) Ann. Neurol. 37, 400-3.