The ever-expanding spectrum of congenital muscular dystrophies

Annals of Neurology

Volumn 72, Issue 1, 2012, Pages 9-17

  Mercuri, Eugenio ^a,b   Muntoni, Francesco ^b  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLCYSTEINE; ALISPORIVIR; ALPHA7 INTEGRIN; ANTIOXIDANT; CHOLINE KINASE; COLLAGEN TYPE 6; CYCLOSPORIN A; DOXYCYCLINE; DYSTROGLYCAN; EMERIN; FUKUTIN RELATED PROTEIN; GLYCOSYLTRANSFERASE; LAMIN; LAMININ ALPHA2; LOSARTAN; MANNOSYLTRANSFERASE; OMIGAPIL; SELENOPROTEIN; STRUCTURAL PROTEIN; TRANSFORMING GROWTH FACTOR BETA;

ARTICLE; CLINICAL FEATURE; CONCEPTUAL FRAMEWORK; CONGESTIVE CARDIOMYOPATHY; CONTRACTURE; DARIER DISEASE; DISEASE ASSOCIATION; DYSTROGLYCANOPATHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; FORCED VITAL CAPACITY; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HIP DYSPLASIA; HUMAN; IMMUNOHISTOCHEMISTRY; INTEGRIN ALPHA9 GENE; KYPHOSIS; LIMB GIRDLE MUSCULAR DYSTROPHY; MENTAL DEFICIENCY; MEROSIN DEFICIENT CONGENITAL MUSCULAR DYSTROPHY; MICROCEPHALY; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; MUSCLE EYE BRAIN DISEASE; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; MYOPATHY; NONINVASIVE VENTILATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; PRIORITY JOURNAL; PROTEIN DEFECT; SCOLIOSIS; SELENOPROTEIN N1 RELATED CONGENITAL MUSCULAR DYSTROPHY; TORTICOLLIS; ULLRICH CONGENITAL MUSCULAR DYSTROPHY; WALKER WARBURG SYNDROME; WESTERN BLOTTING;

DYSTROGLYCANS; GLYCOSYLTRANSFERASES; HUMANS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES;

EID: 84864449491     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.23548     Document Type: Article

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