Bethlem myopathy (BETHLEM) 86th ENMC International Workshop, 10-11 November 2000, Naarden, The Netherlands

Neuromuscular Disorders

Volumn 12, Issue 3, 2002, Pages 296-305

  Pepe, Guglielmina ^a   De Visser, Marianne ^b   Bertini, Enrico ^c   Bushby, Kate ^d   Vanegas, Olga Camacho ^a   Chu, Mon Li ^e   Lattanzi, Giovanna ^f   Merlini, Luciano ^g   Muntoni, Francesco ^h   Urtizberea, Andoni ⁱ  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e THOMAS JEFFERSON UNIVERSITY   (United States)

^f CNR   (Italy)

^g RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^h HAMMERSMITH HOSPITAL   (United Kingdom)

ⁱ PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; DNA; SCLEROPROTEIN;

ANIMAL MODEL; BETHLEM MYOPATHY; CLINICAL FEATURE; CONFERENCE PAPER; DNA POLYMORPHISM; EXTRACELLULAR MATRIX; FIBROBLAST; GENE CONTROL; GENE MUTATION; GENE SEGREGATION; GENE STRUCTURE; GENETIC SCREENING; HISTOLOGY; HUMAN; IMMUNOCYTOCHEMISTRY; IMMUNOPRECIPITATION; KNOCKOUT MOUSE; MOLECULAR BIOLOGY; MYOPATHY; NETHERLANDS; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; SEGREGATION ANALYSIS; SKELETAL MUSCLE; TISSUE CHARACTERIZATION; TISSUE DISTRIBUTION; ULTRASTRUCTURE; WESTERN BLOTTING;

ANIMALS; COLLAGEN TYPE VI; HUMANS; MUSCULAR DISEASES;

EID: 0036173516     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(01)00275-9     Document Type: Article

References (19)

1. Benign myopathy with autosomal dominant inheritance. A report on three pedigrees
2. Bethlem myopathy: A slowly progressive congenital muscular dystrophy with contractures
3. Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families
4. Genetic localization of Bethlem myopathy
5. Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37
6. Spatial and temporal changes of type VI collagen expression during mouse development
7. Collagen VI deficiency induces early onset myopathy in the mouse: An animal model for Bethlem myopathy
8. Type VI collagen mutations in Bethlem Myopathy, an autosomal dominant myopathy with contractures
9. Missense mutation in a von Willebrand factor type A domain of the α3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy
10. Reduced collagen VI causes Bethlem myopathy: A heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
11. Bethlem myopathy and engineered collagen VI triple helical deletions prevent intracellular multimer assembly and protein secretion
12. A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the α1(VI) collagen chain in an Italian family affected by Bethlem myopathy
13. 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
14. A Bethlem myopathy Gly to Glu mutation in the von Willebrand factor A domain N2 of collagen a3(VI) chain interferes with protein folding
15. Identification of a polymorphic CA-repeat in the COL6A2 gene on human chromosome 21q22.3
16. CA repeat polymorphism of the COL6A3 gene on chromosome 2q37
17. Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy
18. The syndrome of myosclerosis