Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

European Journal of Paediatric Neurology

Volumn 6, Issue 4, 2002, Pages 193-198

  Bertini, Enrico ^a   Pepe, Guglielmina ^b  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Bethlem myopathy; Collagen VI; Ullrich congenital muscular dystrophy

Indexed keywords

COLLAGEN TYPE 6;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BETHLEM MYOPATHY; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IMMUNOHISTOCHEMISTRY; KNOCKOUT MOUSE; MISSENSE MUTATION; MOUSE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; NEUROMUSCULAR DISEASE; NONHUMAN; PRIORITY JOURNAL; SPLICING MUTATION; ULLRICH SCLEROATONIC MUSCULAR DYSTROPHY;

EID: 0036378561     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1053/ejpn.2002.0593     Document Type: Review

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