000			01937 a2200577 4500
005			20250514075220.0
264		0	_c20031007
008			200310s 0 0 eng d
022			_a0960-8966
024	7		_a10.1016/s0960-8966(03)00071-3 _2doi
040			_aNLM _beng _cNLM
100	1		_aDeschauer, Marcus
245	0	0	_aA novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. _h[electronic resource]
260			_bNeuromuscular disorders : NMD _cSep 2003
300			_a568-72 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650	0	4	_aAdult
650	0	4	_aAged
650	0	4	_aBase Sequence
650	0	4	_aBlotting, Southern _xmethods
650	0	4	_aDNA Helicases
650	0	4	_aDNA Mutational Analysis
650	0	4	_aDNA Primase _xgenetics
650	0	4	_aDNA-Binding Proteins _xgenetics
650	0	4	_aFamily Health
650	0	4	_aFemale
650	0	4	_aHeterozygote
650	0	4	_aHumans
650	0	4	_aLysine _xgenetics
650	0	4	_aMale
650	0	4	_aMiddle Aged
650	0	4	_aMitochondrial Proteins
650	0	4	_aMolecular Biology _xmethods
650	0	4	_aMuscles _xmetabolism
650	0	4	_aMutation
650	0	4	_aOphthalmoplegia, Chronic Progressive External _xetiology
650	0	4	_aPedigree
650	0	4	_aPolymorphism, Restriction Fragment Length
650	0	4	_aReverse Transcriptase Polymerase Chain Reaction _xmethods
650	0	4	_aSequence Alignment
650	0	4	_aThreonine _xgenetics
650	0	4	_aViral Proteins _xgenetics
700	1		_aKiefer, Reinhard
700	1		_aBlakely, Emma L
700	1		_aHe, Langping
700	1		_aZierz, Stephan
700	1		_aTurnbull, Douglass M
700	1		_aTaylor, Robert W
773	0		_tNeuromuscular disorders : NMD _gvol. 13 _gno. 7-8 _gp. 568-72
856	4	0	_uhttps://doi.org/10.1016/s0960-8966(03)00071-3 _zAvailable from publisher's website
999			_c12694723 _d12694723