+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy

PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy

Journal of Medical Genetics 35(3): 211-217

Classical congenital muscular dystrophy with merosin deficiency is caused by mutations in the laminin alpha2 chain gene (LAMA2). Extended sequencing of the introns flanking the 64 LAMA2 exons was carried out and, based on these sequences, oligonucleotide primers were designed to amplify the coding region of each exon separately. By PCR-SSCP analysis, we identified eight new mutations in nine families originating from various countries.

Please choose payment method:

(PDF emailed within 0-6 h: $19.90)

Accession: 009151319

Download citation: RISBibTeXText

PMID: 9541105

DOI: 10.1136/jmg.35.3.211

Related references

Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: a new model of merosin (laminin 2)-deficient congenital muscular dystrophy. Febs Letters 415(1): 33-39, 1997

Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy. Journal of Biological Chemistry 271(44): 27664-9, 1996

Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). European Journal of Human Genetics 10(2): 91-94, 2002

LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect. Archives of Neurology 62(10): 1582-1586, 2005

Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. Neuromuscular Disorders 15(9-10): 588-594, 2005

Mutations in the laminin alpha-2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nature Genetics 11(2): 216-218, 1995

Laminin alpha2 deficient congenital muscular dystrophy: prenatal diagnosis. Early Human Development 55(1): 19-24, 1999

Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy. Diagnostic Molecular Pathology 13(3): 167-171, 2004

LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha2 protein and a severe congenital muscular dystrophy. Neuromuscular Disorders 18(2): 137-145, 2008

Murine muscular dystrophy caused by a mutation in the laminin alpha-2(Lama2) gene. Nature Genetics 8(3): 297-302, 1994

Structure of the human laminin a2-chain gene (LAMA2), which is affected in cogenital muscular dystrophy. The Journal of Biological Chemistry 271: 664-9, 1996

Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis. Neuromuscular Disorders 7(3): 180-186, 1997

A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy. Neurology 55(8): 1128-1134, 2000

Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain. Human Molecular Genetics 6(5): 747-752, 1997

Congenital muscular dystrophy with primary partial laminin alpha2 chain deficiency: molecular study. Neurology 57(7): 1319-1322, 2001