A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

Neuromuscular Disorders

Volumn 9, Issue 4, 1999, Pages 264-271

  Pepe, G ^a,c   Bertini, E ^b   Giusti, B ^c   Brunelli, T ^c   Comeglio, P ^c   Saitta, B ^d   Merlini, L ^e   Chu, M L ^d   Federici, G ^a,b   Abbate, R ^c  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

^d THOMAS JEFFERSON UNIVERSITY   (United States)

^e RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

Author keywords

Bethlem myopathy; Collagen type VI; Extracellular matrix

Indexed keywords

COLLAGEN TYPE 6;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BETHLEM MYOPATHY; CASE REPORT; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DNA POLYMORPHISM; EXTRACELLULAR MATRIX; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; MYOPATHY; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRIPLE HELIX;

ADULT; AMINO ACID SUBSTITUTION; CELLS, CULTURED; CHILD; COLLAGEN; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; HETERODUPLEX ANALYSIS; HUMANS; MALE; MUSCLE, SKELETAL; MUTATION; NEUROMUSCULAR DISEASES; PEDIGREE; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA; SEQUENCE ANALYSIS, DNA; SKIN;

EID: 0033030311     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00014-0     Document Type: Article

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