Characterization of a rare case of Ullrich congenital muscular dystrophy due to truncating mutations within the COL6A1 gene C-Terminal domain: A case report

BMC Medical Genetics

Volumn 14, Issue 1, 2013, Pages

  Martoni, Elena ^a   Petrini, Stefania ^b   Trabanelli, Cecilia ^a   Sabatelli, Patrizia ^c   Urciuolo, Anna ^d   Selvatici, Rita ^a   D'Amico, Adele ^b   Falzarano, Sofia ^a   Bertini, Enrico ^b   Bonaldo, Paolo ^d   Ferlini, Alessandra ^a   Gualandi, Francesca ^a  

^a UNIVERSITY OF FERRARA   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c CNR   (Italy)

^d UNIVERSITY OF PADOVA   (Italy)

Author keywords

C terminal truncating mutations; Collagen VI; Ullrich congenital dystrophy

Indexed keywords

CELL PROTEIN; COLLAGEN TYPE 6; COLLAGEN TYPE 6A1; FIBRONECTIN; RNA; UNCLASSIFIED DRUG;

ARTICLE; BRAZIL; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CONFOCAL MICROSCOPY; DISEASE SEVERITY; DNA DETERMINATION; ELECTRON MICROSCOPY; EXTRACELLULAR MATRIX; GAIT DISORDER; GENE INTERACTION; GENE LOSS; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; JOINT LAXITY; MALE; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; NONSENSE MEDIATED MRNA DECAY; PHENOTYPE; PRESCHOOL CHILD; PROTEIN DOMAIN; PROTEIN SYNTHESIS; RARE DISEASE; REAL TIME POLYMERASE CHAIN REACTION; RNA ANALYSIS; RNA ISOLATION; SKIN FIBROBLAST; ULLRICH CONGENITAL MUSCULAR DYSTROPHY; WALKING DIFFICULTY; WESTERN BLOTTING;

CELLS, CULTURED; COLLAGEN TYPE VI; EXTRACELLULAR MATRIX; FIBROBLASTS; FIBRONECTINS; HETEROZYGOTE; HUMANS; MALE; MICROSCOPY, CONFOCAL; MUSCULAR DYSTROPHIES; MUTATION; PHENOTYPE; PROTEIN STRUCTURE, TERTIARY; RARE DISEASES; RNA STABILITY; SCLEROSIS;

EID: 84878453824     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-14-59     Document Type: Article

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