about
Toward a mtDNA locus-specific mutation database using the LOVD platformMutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations.The m.3291T>C mt-tRNA(Leu(UUR)) mutation is definitely pathogenic and causes multisystem mitochondrial disease.A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations.Early-onset cataracts, spastic paraparesis, and ataxia caused by a novel mitochondrial tRNAGlu (MT-TE) gene mutation causing severe complex I deficiency: a clinical, molecular, and neuropathologic study.
P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
John W Yarham
@ast
John W Yarham
@en
John W Yarham
@es
John W Yarham
@nl
type
label
John W Yarham
@ast
John W Yarham
@en
John W Yarham
@es
John W Yarham
@nl
prefLabel
John W Yarham
@ast
John W Yarham
@en
John W Yarham
@es
John W Yarham
@nl
P106
P31
P496
0000-0003-4792-1790