Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.
Ng, Yi Shiau
Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation. [electronic resource] - Neuromuscular disorders : NMD 10 2016 - 702-705 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1873-2364
10.1016/j.nmd.2016.08.009 doi
Ataxia--diagnostic imaging
Brain--diagnostic imaging
DNA, Mitochondrial
Disease Progression
Female
Humans
Middle Aged
Mitochondrial Diseases--diagnostic imaging
Muscle, Skeletal--pathology
Mutation
Phenotype
Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation. [electronic resource] - Neuromuscular disorders : NMD 10 2016 - 702-705 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1873-2364
10.1016/j.nmd.2016.08.009 doi
Ataxia--diagnostic imaging
Brain--diagnostic imaging
DNA, Mitochondrial
Disease Progression
Female
Humans
Middle Aged
Mitochondrial Diseases--diagnostic imaging
Muscle, Skeletal--pathology
Mutation
Phenotype