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Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency

  • Published:2002-05 Issue:4 Volume:12 Page:392-398
  • ISSN:0960-8966
  • Container-title:Neuromuscular Disorders
  • language:en
  • Short-container-title:Neuromuscular Disorders

Author:

Deodato F,Sabatelli M,Ricci E,Mercuri E,Muntoni F,Sewry C,Naom I,Tonali P,Guzzetta F

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference41 articles.

1. Mutation in the laminin alpha-2 chain gene(LAMA2) cause merosin deficient congenital muscular dystrophy;Helbling-Leclerc;Nat Gen,1995

2. Structure of human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy;Zhang;J Biol Chem,1996

3. Peripheral nerve involvement in merosin deficient CMD and dy mouse;Matsumura;Neuromuscul Disord,1997

4. Localization of merosin in the normal human brain: implications for congenital muscular deficiency;Villanova;J Submicrosc Cytol Pathol,1996

5. Localization of laminin α2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study;Villanova;Acta Neuropathol,1997
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