High creatine kinase levels and white matter changes: Clinical and genetic spectrum of congenital muscular dystrophies with laminin alpha-2 deficiency
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology
Reference19 articles.
1. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy;Helbling-Leclerc;Nat Genet,1995
2. The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and review;Jones;J Med Genet,2001
3. The ever-expanding spectrum of congenital muscular dystrophies;Mercuri;Ann Neurol,2012
4. LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients;Oliveira;Clin Genet,2008
5. The congenital muscular dystrophies in 2004: a century of exciting progress;Muntoni;Neuromuscul Disord,2004
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1. LAMA2-Related Muscular Dystrophy Across the Life Span;Neurology Genetics;2023-07-19
2. Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A;Frontiers in Genetics;2023-06-20
3. Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene;Frontiers in Pediatrics;2023-06-19
4. Congenital Muscular Dystrophy Due to Merosin Deficiency: Report of a New Mutation;Cureus;2023-06-05
5. Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis;Genes;2023-02-14
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