Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy

Muscle and Nerve

Volumn 25, Issue 4, 2002, Pages 513-519

  Vanegas, Olga Camacho ^a   Zhang, Rui Zhu ^b   Sabatelli, Patrizia ^c   Lattanzi, Giovanna ^c   Bencivenga, Paola ^a   Giusti, Betti ^d   Columbaro, Marta ^c   Chu, Mon Li ^b   Merlini, Luciano ^c   Pepe, Guglielmina ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

Author keywords

Bethlem myopathy; COL6A1; Collagen type VI; Neuromuscular disorder; Splicing mutation

Indexed keywords

COLLAGEN TYPE 4; GENE PRODUCT; NUCLEOTIDE; PROTEIN COL6A1; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ARTICLE; BETHLEM MYOPATHY; CONTROLLED STUDY; COST BENEFIT ANALYSIS; DIAGNOSTIC ACCURACY; DNA DETERMINATION; DONOR SITE; FAMILY HISTORY; FIBROBLAST; GENE DELETION; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; MAJOR CLINICAL STUDY; MYOPATHY; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FAMILY; SKIN BIOPSY; WESTERN BLOTTING;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALTERNATIVE SPLICING; COLLAGEN TYPE VI; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION REGULATION; GENETIC SCREENING; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; PEDIGREE; POINT MUTATION; RNA, MESSENGER;

EID: 0036214047     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.10100     Document Type: Article

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