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.
2. Substitution of a conserved cysteine-996 in a cysteine-rich motif of the laminin alpha2-chain in congenital muscular dystrophy with partial deficiency of the protein. Nissinen M; Helbling-Leclerc A; Zhang X; Evangelista T; Topaloglu H; Cruaud C; Weissenbach J; Fardeau M; Tomé FM; Schwartz K; Tryggvason K; Guicheney P Am J Hum Genet; 1996 Jun; 58(6):1177-84. PubMed ID: 8651294 [TBL] [Abstract][Full Text] [Related]
3. 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 J Med Genet; 1998 Mar; 35(3):211-7. PubMed ID: 9541105 [TBL] [Abstract][Full Text] [Related]
4. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Helbling-Leclerc A; Zhang X; Topaloglu H; Cruaud C; Tesson F; Weissenbach J; Tomé FM; Schwartz K; Fardeau M; Tryggvason K Nat Genet; 1995 Oct; 11(2):216-8. PubMed ID: 7550355 [TBL] [Abstract][Full Text] [Related]
5. Expression of laminin chains in skin in merosin-deficient congenital muscular dystrophy. Sewry CA; D'Alessandro M; Wilson LA; Sorokin LM; Naom I; Bruno S; Ferlini A; Dubowitz V; Muntoni F Neuropediatrics; 1997 Aug; 28(4):217-22. PubMed ID: 9309712 [TBL] [Abstract][Full Text] [Related]
6. Novel mutations in LAMA2 gene responsible for a severe phenotype of congenital muscular dystrophy in two Tunisian families. Louhichi N; Richard P; Triki CH; Meziou M; Ayadi H; Guicheney P; Fakhfakh F Arch Inst Pasteur Tunis; 2006; 83(1-4):19-23. PubMed ID: 19388593 [TBL] [Abstract][Full Text] [Related]
7. [Muscular dystrophies due to alterations at extracellular space level: congenital muscular dystrophy caused by merosin deficiency]. Smeyers P Rev Neurol; 1999 Jan 16-31; 28(2):141-9. PubMed ID: 10101782 [TBL] [Abstract][Full Text] [Related]
8. Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy. Naom I; D'Alessandro M; Sewry CA; Philpot J; Manzur AY; Dubowitz V; Muntoni F Neuromuscul Disord; 1998 Oct; 8(7):495-501. PubMed ID: 9829280 [TBL] [Abstract][Full Text] [Related]
9. 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 Neuromuscul Disord; 2005 Oct; 15(9-10):588-94. PubMed ID: 16084089 [TBL] [Abstract][Full Text] [Related]
10. Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene. Turner C; Mein R; Sharpe C; Love DR J Clin Neurosci; 2015 Dec; 22(12):1983-5. PubMed ID: 26249246 [TBL] [Abstract][Full Text] [Related]
11. 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. Brockington M; Blake DJ; Prandini P; Brown SC; Torelli S; Benson MA; Ponting CP; Estournet B; Romero NB; Mercuri E; Voit T; Sewry CA; Guicheney P; Muntoni F Am J Hum Genet; 2001 Dec; 69(6):1198-209. PubMed ID: 11592034 [TBL] [Abstract][Full Text] [Related]
12. Readjusting the localization of merosin (laminin alpha 2-chain) deficient congenital muscular dystrophy locus on chromosome 6q2. Helbling-Leclerc A; Topaloglu H; Tomé FM; Sewry C; Gyapay G; Naom I; Muntoni F; Dubowitz V; Barois A; Estournet B C R Acad Sci III; 1995 Dec; 318(12):1245-52. PubMed ID: 8745640 [TBL] [Abstract][Full Text] [Related]
13. Mild congenital muscular dystrophy in two patients with an internally deleted laminin alpha2-chain. Allamand V; Sunada Y; Salih MA; Straub V; Ozo CO; Al-Turaiki MH; Akbar M; Kolo T; Colognato H; Zhang X; Sorokin LM; Yurchenco PD; Tryggvason K; Campbell KP Hum Mol Genet; 1997 May; 6(5):747-52. PubMed ID: 9158149 [TBL] [Abstract][Full Text] [Related]
14. Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin alpha 2 chain. Sewry CA; Naom I; D'Alessandro M; Sorokin L; Bruno S; Wilson LA; Dubowitz V; Muntoni F Neuromuscul Disord; 1997 May; 7(3):169-75. PubMed ID: 9185180 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients. Xiong H; Tan D; Wang S; Song S; Yang H; Gao K; Liu A; Jiao H; Mao B; Ding J; Chang X; Wang J; Wu Y; Yuan Y; Jiang Y; Zhang F; Wu H; Wu X Clin Genet; 2015 Mar; 87(3):233-43. PubMed ID: 24611677 [TBL] [Abstract][Full Text] [Related]