000 01567 a2200469 4500
005 20250517114314.0
264 0 _c20180125
008 201801s 0 0 eng d
022 _a1873-2364
024 7 _a10.1016/j.nmd.2016.08.009
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aNg, Yi Shiau
245 0 0 _aClinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation.
_h[electronic resource]
260 _bNeuromuscular disorders : NMD
_c10 2016
300 _a702-705 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAtaxia
_xdiagnostic imaging
650 0 4 _aBrain
_xdiagnostic imaging
650 0 4 _aDNA, Mitochondrial
650 0 4 _aDisease Progression
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aMiddle Aged
650 0 4 _aMitochondrial Diseases
_xdiagnostic imaging
650 0 4 _aMuscle, Skeletal
_xpathology
650 0 4 _aMutation
650 0 4 _aPhenotype
700 1 _aHardy, Steven A
700 1 _aShrier, Venice
700 1 _aQuaghebeur, Gerardine
700 1 _aMole, David R
700 1 _aDaniels, Matthew J
700 1 _aDownes, Susan M
700 1 _aFreebody, Jane
700 1 _aFratter, Carl
700 1 _aHofer, Monika
700 1 _aNemeth, Andrea H
700 1 _aPoulton, Joanna
700 1 _aTaylor, Robert W
773 0 _tNeuromuscular disorders : NMD
_gvol. 26
_gno. 10
_gp. 702-705
856 4 0 _uhttps://doi.org/10.1016/j.nmd.2016.08.009
_zAvailable from publisher's website
999 _c26409815
_d26409815