Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy

Lancet

Volumn 347, Issue 9001, 1996, Pages 582-584

  Sewry, C A ^a,b   Philpot, J ^a   Sorokin, L M ^c   Wilson, L A ^a   Naom, I ^a   Goodwin, F ^a   D'Alessandro, M ^a   Dubowitz, V ^a   Muntoni, F ^a  

^a Dept of Paediatr and Neonatal Med   (Germany)

^b MRC CLINICAL SCIENCES CENTRE   (United Kingdom)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

LAMININ;

ALPHA CHAIN; ARTICLE; BASEMENT MEMBRANE; CASE REPORT; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DERMOEPIDERMAL JUNCTION; FEMALE; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; MALE; MUSCULAR DYSTROPHY; NORMAL HUMAN; PRIORITY JOURNAL; SCHOOL CHILD; SKIN BIOPSY;

EID: 0030053280     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(96)91274-X     Document Type: Article

References (16)

1. Dubowitz V. Muscle disorders of childhood. 2nd ed. London: Saunders, 1995.
2. Tome FMS, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci Paris Life Sci 1994; 317: 351-57.
3. Sewry CA, Philpot J, Mahoney D, Wilson LA, Muntoni F, Dubowitz V. Expression of laminin subunits in congenital muscular dystrophy. Neuromusc Disord 1995; 5: 307-16.
4. Hillaire D, Leclerc A, Faure S, et al. Localisation of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Molec Genet 1994; 3: 1657-61.
5. Helbling-Leclerc A, Zhang X, Topaloglu H, et al. Mutations in the laminin α2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genet 1995; 11: 216-18.
6. Toda T, Segawa M, Nomura Y, et al. Localisation of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nature Genet 1993; 5: 283-86.
7. Engvall E. Laminin variants: why, where and when? Kidney Int 1993; 43: 2-6.
8. Burgeson RE, Chiquet M, Deutzmann R, et al. A new nomenclature for the laminins. Matrix Biol 1994; 14: 209-11.
9. Philpot J, Sewry C, Pennock J, Dubowitz V. Clinical phenotye in congenital muscular dystrophy: correlation with expression of merosin in skeletal muscle. Neuromusc Disord 1995; 5: 301-05.
10. Shorer Z, Philpot J, Muntoni F, Sewry C, Dubowitz V. Peripheral nerve involvement in congenital muscular dystrophy. J Child Neurol 1995; 10: 472-75.
11. Mercuri E, Muntoni F, Berardinelli A, et al. Somatosensory and visual evoked potentials in congenital muscular dystrophy: correlation with MRI changes and muscle merosin status. Neuropediatrics 1995; 26: 3-7.
12. Mercuri E, Dubowitz L, Berardinelli A, et al. Minor neurological and perceptuomotor deficits in children with congenital muscular dystrophy: correlation with brain MRI changes. Neuropediatrics 1995; 26: 156-62.
13. Muntoni F, Sewry C, Wilson L, et al. Prenatal diagnosis in congenital muscular dystrophy. Lancet 1995; 345: 591.
14. Schuler F, Sorokin LM. Expression of laminin isoforms in mouse myogenic cells in vitro and in vivo. J Cell Sci 1995; 108: 3795-05.
15. Dubowitz V. Muscle biopsy: a practical approach. 2nd ed. London: Baillière Tindall, 1985.
16. Helbling-Leclerc A, Topaloglu H, Tome FMS, et al. Readjusting the localisation of merosin (laminin α2-chain) deficient congenital muscular dystrophy locus on chromosome 6q 2. C R Acad Sci Paris Life Sci 1995; 318: 1245-52.