Congenital muscular dystrophy. Part I: A review of phenotypical and diagnostic aspects

Arquivos de Neuro-Psiquiatria

Volumn 67, Issue 1, 2009, Pages 144-168

  Reed, Umbertina Conti ^a,b,c  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Disciplina de Neurolgia Infantil   (Brazil)

^c NONE   (Brazil)

Author keywords

Collagen VI related disorders; Congenital muscular dystrophy; Fukuyama DMC; Glycosylation of alpha dystroglycan; MDC1A; Muscle eye braiin (MEB) disease; Rigid spine syndrome; Walker Warburg syndrome

Indexed keywords

ALPHA DYSTROGLYCAN; COLLAGEN TYPE 6; DYSTROPHIN; GLYCOPROTEIN; LAMIN A; LAMIN C; MEROSIN;

ALPHA DYSTROGLYCANOPATHY; BETHLEM MYOPATHY; COLLAGEN DISEASE; CONGENITAL MUSCULAR DYSTROPHY 1B; CONGENITAL MUSCULAR DYSTROPHY 1C; CONGENITAL MUSCULAR DYSTROPHY 1D; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE COURSE; EXTRACELLULAR MATRIX; FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY; GENE MUTATION; GENOTYPE; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE BIOPSY; MUSCLE EYE BRAIN DISEASE; MUSCULAR DYSTROPHY; MYOPATHY; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PALLIATIVE THERAPY; PATHOGENESIS; PHENOTYPE; PROTEIN DEFICIENCY; REVIEW; SPINE MUSCULAR DYSTROPHY; TURNER SYNDROME; WALKER WARBURG SYNDROME;

EID: 66149192083     PISSN: 0004282X     EISSN: 16784227     Source Type: Journal    
DOI: 10.1590/S0004-282X2009000100038     Document Type: Review

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