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1997 3
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Prenatal diagnosis in merosin-deficient congenital muscular dystrophy.
Naom I, Sewry C, D'Alessandro M, Topaloglu H, Ferlini A, Wilson L, Dubowitz V, Muntoni F. Naom I, et al. Neuromuscul Disord. 1997 May;7(3):176-9. doi: 10.1016/s0960-8966(97)00448-3. Neuromuscul Disord. 1997. PMID: 9185181
Prenatal diagnosis was carried out in five merosin-deficient congenital muscular dystrophy (CMD) families. We studied both laminin-alpha 2 chain expression in trophoblast using immunocytochemistry and linkage analysis to the LAMA2 locus. ...We c …
Prenatal diagnosis was carried out in five merosin-deficient congenital muscular dystrophy (CMD) families …
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
Geranmayeh F, Clement E, Feng LH, Sewry C, Pagan J, Mein R, Abbs S, Brueton L, Childs AM, Jungbluth H, De Goede CG, Lynch B, Lin JP, Chow G, Sousa Cd, O'Mahony O, Majumdar A, Straub V, Bushby K, Muntoni F. Geranmayeh F, et al. Neuromuscul Disord. 2010 Apr;20(4):241-50. doi: 10.1016/j.nmd.2010.02.001. Epub 2010 Mar 6. Neuromuscul Disord. 2010. PMID: 20207543
Merosin deficient congenital muscular dystrophy 1A (MDC1A) results from mutations in the LAMA2 gene. We report 51 patients with MDC1A and examine the relationship between degree of merosin expression, genotype and clinical features. Thirt …
Merosin deficient congenital muscular dystrophy 1A (MDC1A) results from mutations in the LAMA2 gene. We r …
Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.
Vainzof M, Richard P, Herrmann R, Jimenez-Mallebrera C, Talim B, Yamamoto LU, Ledeuil C, Mein R, Abbs S, Brockington M, Romero NB, Zatz M, Topaloglu H, Voit T, Sewry C, Muntoni F, Guicheney P, Tomé FM. Vainzof M, et al. Neuromuscul Disord. 2005 Oct;15(9-10):588-94. doi: 10.1016/j.nmd.2005.04.009. Neuromuscul Disord. 2005. PMID: 16084089
The congenital muscular dystrophies (CMD) are clinically and genetically heterogeneous. The merosin (laminin alpha2 chain) deficient form (MDC1A), is characterized clinically by neonatal hypotonia, delayed motor milestones and associated contractures. …
The congenital muscular dystrophies (CMD) are clinically and genetically heterogeneous. The merosin (laminin alpha2 cha …
The role of immunocytochemistry and linkage analysis in the prenatal diagnosis of merosin-deficient congenital muscular dystrophy.
Naom I, D'Alessandro M, Sewry C, Ferlini A, Topaloglu H, Helbling-Leclerc A, Guicheney P, Schwartz K, Akcoren Z, Dubowitz V, Muntoni F. Naom I, et al. Hum Genet. 1997 Apr;99(4):535-40. doi: 10.1007/s004390050402. Hum Genet. 1997. PMID: 9099847
Complete or partial deficiency of the laminin alpha2 chain of merosin has been demonstrated in a proportion of children with classical congenital muscular dystrophy and linkage to the laminin alpha2 chain gene (LAMA2) on chromosome 6q2 has been establi …
Complete or partial deficiency of the laminin alpha2 chain of merosin has been demonstrated in a proportion of children with classica …
Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.
Guicheney P, Vignier N, Helbling-Leclerc A, Nissinen M, Zhang X, Cruaud C, Lambert JC, Richelme C, Topaloglu H, Merlini L, Barois A, Schwartz K, Tomé FM, Tryggvason K, Fardeau M. Guicheney P, et al. Neuromuscul Disord. 1997 May;7(3):180-6. doi: 10.1016/s0960-8966(97)00460-4. Neuromuscul Disord. 1997. PMID: 9185182
Congenital muscular dystrophies (CMD) are a clinically and genetically heterogeneous group of muscle disorders, with autosomal recessive inheritance. Absence of the laminin alpha 2 chain in the skeletal muscle of patients with classical CMD has permitted the identif …
Congenital muscular dystrophies (CMD) are a clinically and genetically heterogeneous group of muscle disorders, with autosomal …
PCR based mutation screening of the laminin alpha2 chain gene (LAMA2): application to prenatal diagnosis and search for founder effects in congenital muscular dystrophy.
Guicheney P, Vignier N, Zhang X, He Y, Cruaud C, Frey V, Helbling-Leclerc A, Richard P, Estournet B, Merlini L, Topaloglu H, Mora M, Harpey JP, Haenggeli CA, Barois A, Hainque B, Schwartz K, Tomé FM, Fardeau M, Tryggvason K. Guicheney P, et al. J Med Genet. 1998 Mar;35(3):211-7. doi: 10.1136/jmg.35.3.211. J Med Genet. 1998. PMID: 9541105 Free PMC article.
Classical congenital muscular dystrophy with merosin deficiency is caused by mutations in the laminin alpha2 chain gene (LAMA2). ...This study provides valuable methods for determining the molecular defects in LAMA2 causing merosin deficient …
Classical congenital muscular dystrophy with merosin deficiency is caused by mutations in the laminin alpha2 cha …