000 01485 a2200445 4500
005 20250516081131.0
264 0 _c20120709
008 201207s 0 0 eng d
022 _a1469-8749
024 7 _a10.1111/j.1469-8749.2012.04224.x
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aNesbitt, Victoria
245 0 0 _aThe clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
_h[electronic resource]
260 _bDevelopmental medicine and child neurology
_cJun 2012
300 _a500-6 p.
_bdigital
500 _aPublication Type: Journal Article; Review
650 0 4 _aAdult
650 0 4 _aBrain
_xpathology
650 0 4 _aChild, Preschool
650 0 4 _aElectron Transport Complex I
_xdeficiency
650 0 4 _aFemale
650 0 4 _aHumans
650 0 4 _aInfant
650 0 4 _aInfant, Newborn
650 0 4 _aLeigh Disease
_xcomplications
650 0 4 _aMagnetic Resonance Imaging
650 0 4 _aMale
650 0 4 _aPoint Mutation
_xgenetics
650 0 4 _aProline
_xgenetics
650 0 4 _aSerine
_xgenetics
700 1 _aMorrison, Patrick J
700 1 _aCrushell, Ellen
700 1 _aDonnelly, Deirdre E
700 1 _aAlston, Charlotte L
700 1 _aHe, Langping
700 1 _aMcFarland, Robert
700 1 _aTaylor, Robert W
773 0 _tDevelopmental medicine and child neurology
_gvol. 54
_gno. 6
_gp. 500-6
856 4 0 _uhttps://doi.org/10.1111/j.1469-8749.2012.04224.x
_zAvailable from publisher's website
999 _c21573554
_d21573554