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4 Possible Causes for Caused by Mutation in the Laminin Alpha 1 Gene

  • Congenital Muscular Dystrophy

    Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet. 1995 Oct. 11(2):216-8. [Medline].[emedicine.medscape.com] Mutations in the integrin alpha7 gene cause congenital myopathy. Nat Genet. 1998 May. 19(1):94-7. [Medline]. Helbling-Leclerc A, Zhang X, Topaloglu H, et al.[emedicine.medscape.com]

  • Congenital Muscular Dystrophy Type 1A

    Mutations in the laminin alpha-2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet. 1995;11:216–8. PubMed CrossRef Google Scholar 2.[link.springer.com] Prenatal diagnosis is possible by chorionic villus sampling for evidence of merosin deficiency and by the identification of mutation in the LAMA2 gene.[link.springer.com] Keywords Congenital muscular dystrophy Merosin White matter brain abnormalities References 1. Helbling-Leclerc A, Zhang X, Topaloglu H, et al.[link.springer.com]

  • Congenital Muscular Dystrophy Type 1D

    Mutations in the laminin alpha-2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet. 1995;11:216–8. PubMed CrossRef Google Scholar 2.[link.springer.com] Prenatal diagnosis is possible by chorionic villus sampling for evidence of merosin deficiency and by the identification of mutation in the LAMA2 gene.[link.springer.com] Keywords Congenital muscular dystrophy Merosin White matter brain abnormalities References 1. Helbling-Leclerc A, Zhang X, Topaloglu H, et al.[link.springer.com]

  • Congenital Muscular Dystrophy Type 1C

    Mutations in the fukutin-related protein gene ( FKRP ) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of[wikigenes.org] alpha-dystroglycan [1].[wikigenes.org] […] impact information on FKRP Here we identify the gene for a new member of the fukutin protein family ( fukutin related protein [ FKRP ]), mapping to human chromosome 19q13 [1][wikigenes.org]

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