Muscle MRI findings in a three-generation family affected by Bethlem myopathy

European Journal of Paediatric Neurology

Volumn 6, Issue 6, 2002, Pages 309-314

  Mercuri, Eugenio ^a,b   Cini, Claudio ^a,c   Counsell, Serena ^a   Allsop, Joanna ^a   Zolkipli, Zuella ^a   Jungbluth, Heinz ^a   Sewry, Caroline ^a   Brown, Susan C ^a   Pepe, Guglielmina ^d   Muntoni, Francesco ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

^b CATHOLIC UNIVERSITY   (Italy)

^c DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^d UNIVERSITY OF ROME TOR VERGATA   (Italy)

Author keywords

Bethlem myopathy; COL6A1 gene; Exon skipping mutation; Muscle MRI

Indexed keywords

COLLAGEN TYPE 6;

ADULT; AGED; ARTICLE; BETHLEM MYOPATHY; CASE REPORT; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FAMILY; FEMALE; GAIT DISORDER; GENE MUTATION; GENETIC ANALYSIS; HAMSTRING; HUMAN; HUMAN TISSUE; JOINT LAXITY; MOTOR DYSFUNCTION; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATTERN RECOGNITION; PRESCHOOL CHILD; PRIORITY JOURNAL; SENSITIVITY AND SPECIFICITY; STANDING; VASTUS LATERALIS MUSCLE;

EID: 0036999976     PISSN: 10903798     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1090-3798(02)90618-5     Document Type: Article

References (18)

1. Jobsis GJ, Boers JM, Barth PG el al. Genetic localization of Bethlem myopathy. Neurology 1996; 46: 779-782.
2. Chu ML, Pan TC, Conway D et al. Sequence analysis of alpha 1(VI) and alpha 2(VI) chains of human type VI collagen reveals internal triplication of globular domains similar to the A domains of von Willebrand factor and two alpha 2(VI) chain variants that differ in the carboxy terminus. EMBO J 1989; 8: 1939-1946.
3. Chu ML, Zhang RZ, Pan TC et al. Mosaic structure of globular domains in the human type VI collagen alpha 3 chain: similarity to von Willebrand factor, fibronectin, actin, salivary proteins and aprotinin type protease inhibitors. EMBO J 1990; 9: 385-393.
4. Bethlem J, van Wijngaarden GK. Benign myopathy, with autosomal dominant inheritance - a report on three pedigrees. Brain 1976; 99: 91-100.
5. Pepe G, de Visser M, Bertini E et al. Bethlem myopathy (BETHLEM) 86th ENMC International workshop, 10-11 November 2000, Naarden, The Netherlands. Neuromusc Disord 2002; 12: 296-305.
6. Jobsis GJ, Boers JM, Barth PG et al. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures. Brain 1999; 122: 649-655.
7. Merlini L, Morandi L, Granata C ct al. Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures: description of two new families. Neuromusc Disord 1994; 4: 503-511.
8. Pepe G, Bertini B, Giusti et al. 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. Neuromusc Disord 1999; 9: 264-271.
9. Liu GC, Jong Y-G, Chiang C-H et al. Duchenne muscular dystrophy: MR grading system with functional correlation. Radiology 1993; 186: 475-480.
10. Meola G, Sansone V, Rotondo G et al. Computerized tomography and magnetic resonance muscle imaging in Miyoshi's myopathy. Muscle Nerve 1996; 11:1476-80.
11. Topaloglu H, Dincer P, Richard I et al. Calpain-3 deficiency causes a mildmuscular dystrophy in childhood. Neuropediatrics 1997; 28: 212-216.
12. Mercuri E, Counsell S, Allsop J et al. Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics 2002; 33: 10-14.
13. Mercuri E, Talim B, Brockington M et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromusc Disord 2002; 12: 631-634.
14. Pepe G, de Visser M, Bertini E et al. Bethlem myopathy (BETHLEM) 86th ENMC International Workshop, Naarden, The Netherlands. Neuromusc Disord 2002; 12: 296-305.
15. Higuchi I, Suehara M, Iwaki H et al. Collagen VI deficiency in Ullrich's disease. Annl Neurol 2001; 49: 544.
16. Camacho-Vanegas O, Bertini E, Zhang RZ et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. PNAS 2001; 98: 7516-7521.
17. Higuchi I, Shiraishi T, Hashiguchi T et al. Frameshift mutations in the Collagen VI gene causes Ullrich's disease. Annl Neurol 2001; 50: 261-265.
18. Mercuri E, Yuva Y, Brown SC et al. Collagen VI involvement in Ullrich syndrome: a clinical, genetic and immunohistochemical study. Neurology, 2002; 58: 1354-1359.