المؤلفون: Soltanzadeh P; Department of Human Genetics, University of Utah, Salt Lake City, UT, USA., Friez MJ, Dunn D, von Niederhausern A, Gurvich OL, Swoboda KJ, Sampson JB, Pestronk A, Connolly AM, Florence JM, Finkel RS, Bönnemann CG, Medne L, Mendell JR, Mathews KD, Wong BL, Sussman MD, Zonana J, Kovak K, Gospe SM Jr, Gappmaier E, Taylor LE, Howard MT, Weiss RB, Flanigan KM

المصدر: Neuromuscular disorders : NMD [Neuromuscul Disord] 2010 Aug; Vol. 20 (8), pp. 499-504. Date of Electronic Publication: 2010 Jul 13.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE

مواضيع طبية MeSH: Dystrophin/*genetics , Muscular Dystrophy, Duchenne/*genetics , Muscular Dystrophy, Duchenne/*pathology, Adolescent ; Adult ; Cardiomyopathy, Dilated/genetics ; Cardiomyopathy, Dilated/pathology ; Child ; Child, Preschool ; DNA Mutational Analysis ; Female ; Heart Function Tests ; Heterozygote ; Humans ; Male ; Middle Aged ; Muscle Weakness/genetics ; Muscle Weakness/physiopathology ; Muscle, Skeletal/pathology ; Mutation/genetics ; Mutation/physiology ; X Chromosome Inactivation/genetics ; Young Adult