Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.
Bertini
Enrico
E
Department of Neurosciences, Unit of Molecular Medicine, "Bambino Gesù Hospital, IRCCS" Rome, Italy. ebertini@tin.it
Pepe
Guglielmina
G
D017398:Alternative Splicing / Q000235:genetics; D024142:Collagen Type VI / Q000096:biosynthesis / Q000235:genetics*; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D015870:Gene Expression / Q000235:genetics; D005786:Gene Expression Regulation / Q000235:genetics; D006801:Humans; D009129:Muscle Tonus / Q000502:physiology*; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology*; D009136:Muscular Dystrophies / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D012598:Sclerosis / Q000235:genetics / Q000473:pathology
D024142:Collagen Type VI