000			02034 a2200625 4500
005			20250516005339.0
264		0	_c20110421
008			201104s 0 0 eng d
022			_a1873-2364
024	7		_a10.1016/j.nmd.2010.08.007 _2doi
040			_aNLM _beng _cNLM
100	1		_aYis, Uluc
245	0	0	_aFukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. _h[electronic resource]
260			_bNeuromuscular disorders : NMD _cJan 2011
300			_a20-30 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article
650	0	4	_aCerebellum _xpathology
650	0	4	_aChild, Preschool
650	0	4	_aDNA Mutational Analysis
650	0	4	_aExons _xgenetics
650	0	4	_aFemale
650	0	4	_aGenotype
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aIntrons _xgenetics
650	0	4	_aMagnetic Resonance Imaging _xmethods
650	0	4	_aMale
650	0	4	_aMembrane Proteins _xgenetics
650	0	4	_aMuscle, Skeletal _xpathology
650	0	4	_aMuscular Dystrophies _xcongenital
650	0	4	_aMutation _xgenetics
650	0	4	_aNeurologic Examination
650	0	4	_aPhenotype
650	0	4	_aSeverity of Illness Index
650	0	4	_aWalker-Warburg Syndrome _xgenetics
700	1		_aUyanik, Gökhan
700	1		_aHeck, Pinar Bambul
700	1		_aSmitka, Martin
700	1		_aNobel, Hannes
700	1		_aEbinger, Friedrich
700	1		_aDirik, Eray
700	1		_aFeng, Lucy
700	1		_aKurul, Semra H
700	1		_aBrocke, Katja
700	1		_aUnalp, Aycan
700	1		_aÖzer, Erdener
700	1		_aCakmakci, Handan
700	1		_aSewry, Caroline
700	1		_aCirak, Sebahattin
700	1		_aMuntoni, Francesco
700	1		_aHehr, Ute
700	1		_aMorris-Rosendahl, Deborah J
773	0		_tNeuromuscular disorders : NMD _gvol. 21 _gno. 1 _gp. 20-30
856	4	0	_uhttps://doi.org/10.1016/j.nmd.2010.08.007 _zAvailable from publisher's website
999			_c20264503 _d20264503