These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
24. Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level. Siala O; Louhichi N; Triki C; Morinière M; Rebai A; Richard P; Guicheney P; Baklouti F; Fakhfakh F Genet Test; 2007; 11(3):199-207. PubMed ID: 17949279 [TBL] [Abstract][Full Text] [Related]
25. Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies. Hadj Salem I; Kamoun F; Louhichi N; Rouis S; Mziou M; Fendri-Kriaa N; Makni-Ayadi F; Triki C; Fakhfakh F Biosci Rep; 2011 Apr; 31(2):125-35. PubMed ID: 20477750 [TBL] [Abstract][Full Text] [Related]
26. Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report. El Kadiri Y; Ratbi I; Laarabi FZ; Kriouile Y; Sefiani A; Lyahyai J BMC Med Genomics; 2021 Apr; 14(1):113. PubMed ID: 33882917 [TBL] [Abstract][Full Text] [Related]
27. Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A. Khorrami A; Goleij P; Karamad V; Taheri E; Shadman B; Emami P; Jahangirzadeh G; Hajazimian S; Isazadeh A; Baradaran B; Heidari M J Clin Lab Anal; 2021 Nov; 35(11):e23930. PubMed ID: 34528292 [TBL] [Abstract][Full Text] [Related]
31. A cryptic intronic LAMA2 insertion in a boy with mild congenital muscular dystrophy type 1A. Specht S; Duff J; Charlton R; Polvikoski T; Barresi R; Töpf A; Straub V Neuromuscul Disord; 2021 Jul; 31(7):660-665. PubMed ID: 34074572 [TBL] [Abstract][Full Text] [Related]
32. Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy. Zhang X; Vuolteenaho R; Tryggvason K J Biol Chem; 1996 Nov; 271(44):27664-9. PubMed ID: 8910357 [TBL] [Abstract][Full Text] [Related]
33. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Demir E; Sabatelli P; Allamand V; Ferreiro A; Moghadaszadeh B; Makrelouf M; Topaloglu H; Echenne B; Merlini L; Guicheney P Am J Hum Genet; 2002 Jun; 70(6):1446-58. PubMed ID: 11992252 [TBL] [Abstract][Full Text] [Related]
34. Rare variant in Amin M; Bakhit Y; Koko M; Ibrahim MOM; Salih MA; Ibrahim M; Seidi OA Acta Myol; 2019 Mar; 38(1):21-24. PubMed ID: 31309178 [TBL] [Abstract][Full Text] [Related]
36. Is there selection in favour of heterozygotes in families with merosin-deficient congenital muscular dystrophy? D'Alessandro M; Naom I; Ferlini A; Sewry C; Dubowitz V; Muntoni F Hum Genet; 1999 Oct; 105(4):308-13. PubMed ID: 10543397 [TBL] [Abstract][Full Text] [Related]
37. Severe congenital muscular dystrophy in a LAMA2-mutated case. Di Blasi C; van Alfen N; Colleoni F; ter Laak H; Mora M Pediatr Neurol; 2007 Sep; 37(3):212-4. PubMed ID: 17765811 [TBL] [Abstract][Full Text] [Related]
38. 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 Neuromuscul Disord; 2010 Apr; 20(4):241-50. PubMed ID: 20207543 [TBL] [Abstract][Full Text] [Related]
39. Severe congenital muscular dystrophy in a Mexican family with a new nonsense mutation (R2578X) in the laminin alpha-2 gene. Coral-Vazquez RM; Rosas-Vargas H; Meza-Espinosa P; Mendoza I; Huicochea JC; Ramon G; Salamanca F J Hum Genet; 2003; 48(2):91-5. PubMed ID: 12601554 [TBL] [Abstract][Full Text] [Related]
40. Protein and DNA analysis for the prenatal diagnosis of alpha2-laminin-deficient congenital muscular dystrophy. Yamamoto LU; Gollop TR; Naccache NF; Pavanello RC; Zanoteli E; Zatz M; Vainzof M Diagn Mol Pathol; 2004 Sep; 13(3):167-71. PubMed ID: 15322429 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]