Localisation of merosin-positive congenital muscular dystrophy to chromosome 4p16.3

Human Genetics

Volumn 117, Issue 2-3, 2005, Pages 207-212

  Sellick, G S ^a   Longman, C ^b,c   Brockington, M ^b   Mahjneh, I ^d   Sagi, L ^b   Bushby, K ^e   Topaloglu H ^f   Muntoni, F ^b   Houlston, R S ^a  

^a INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d UNIVERSITY OF OULU   (Finland)

^e NEWCASTLE UNIVERSITY   (United Kingdom)

^f HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

MEROSIN; LAMININ;

ADULT; ARTICLE; CHILD; CHROMOSOME 4P; CONSANGUINITY; CONTROLLED STUDY; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; GENOME ANALYSIS; HUMAN; HUMAN GENOME; MALE; MICROSATELLITE MARKER; MUSCULAR DYSTROPHY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SINGLE NUCLEOTIDE POLYMORPHISM; CHROMOSOME 4; CHROMOSOME DISORDER; CHROMOSOME MAP; DNA MICROARRAY; GENETICS; METABOLISM; METHODOLOGY; MIDDLE AGED; PEDIGREE; QUANTITATIVE TRAIT LOCUS;

CHROMOSOME DISORDERS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; HUMANS; LAMININ; LOD SCORE; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI;

EID: 26944489264     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-1301-4     Document Type: Article

References (22)

1. Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J et al (2002) Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 71:1033-1043
2. Brockington M, Sewry CA, Herrmann R, Naom I et al (2000) Assignment of a form of congenital muscular dystrophy with secondary merosin deficiency to chromosome 1q42. Am J Hum Genet 66:428-435
3. Brockington M, Blake DJ, Prandini P, Brown SC et al (2001) Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 69:1198-1209
4. Camacho VO, Bertini E, Zhang RZ, Petrini S et al (2001) Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI. Proc Natl Acad Sci USA 98:7516-7521
5. Collins C, Schappert K, Hayden MR (1992) The genomic organisation of a novel regulatory myosin light chain gene (MYL5) that maps to chromosome 4p16.3 and shows different patterns of expression between primates. Hum Mol Gen 1:727-733
6. Demir E, Sabatelli P, Allamand V, Ferreiro A et al (2002) Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet 70:1446-1458
7. Dubowitz V (1994) 22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16 May 1993. Neuromuscul Disord 4:75-81
8. Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C et al (1995) Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet 11:216-218
9. Higuchi I, Shiraishi T, Hashiguchi T, Suehara M et al (2001) Frameshift mutation in the collagen VI gene causes Ullrich's disease. Ann Neurol 50:261-265
10. Kobayashi K, Nakahori Y, Miyake M, Matsumura K et al (1998) An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394:388-392
11. Kruglyak L, Daly MJ, Lander ES (1995) Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 56:519-527
12. Lampe A, Dunn DM, von Niederhauserm AC, Hamil C et al (2005) Automated genomic sequence analysis of the three collagen VI genes: Applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Gen 42:108-120
13. Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C et al (2003) Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet 12:2853-2861
14. Mahjneh I, Vannelli G, Bushby K, Marconi GP (1992) A large inbred Palestinian family with two forms of muscular dystrophy. Neuromuscul Disord 2:277-283
15. Mahjneh I, Bushby K, Anderson L, Muntoni F et al (1999) Merosin-positive congenital muscular dystrophy: A large inbred family. Neuropediatrics 30:22-28
16. Manda R, Kohno T, Matsuno Y, Takenoshita S et al (1999) Identification of genes (SPON2 and C20orf2) differentially expressed between cancerous and noncancerous lung cells by mRNA differential display. Genomics 61:5-14 5-14
17. Matsuzaki H, Loi H, Dong S, Tsai YY et al (2004) Parallel genotyping of over 10,000 SNPs using a one-primer assay on a high-density oligonucleotide array. Genome Res 14:414-425
18. Moghadaszadeh B, Petit N, Jaillard C, Brockington M et al (2001) Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 29:17-18
19. Muntoni F, Voit T (2004) The congenital muscular dystrophies in 2004: A century of exciting progress. Neuromuscul Disord 14:635-649
20. Poetter K, Jiang H, Hassanzadeh S, Master et al (1996) Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet 13:63-69
21. Sellick GS, Longman C, Tolmie J, Newbury-Ecob R et al (2004) Genome-wide linkage searches for Mendelian disease loci can be efficiently conducted using high-density SNP genotyping arrays. Nucleic Acids Res 32:e164
22. Yoshida A, Kobayashi K, Manya H, Taniguchi K et al (2001) Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1. Dev Cell 1:717-724