Directory of MEB Disease Resources

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Muscle-eye-brain disease is an autosomal recessive disease characterized by mental retardation, muscular dystrophy, retinal hypoplasia and brain abnormalities. MEB disease belongs to the group of inherited congenital muscular dystrophies (CMDs) and presents a close resemblance to Fukuyama congenital muscular dystrophy (FCMD) and Walker-Warburg congenital muscular dystrophy.

Resources in This Category

• Carriers and Patients with Muscle-Eye-Brain Disease Can Be Rapidly Diagnosed by Enzymatic Analysis of Fibroblasts and Lymphoblasts

  http://www.ncbi.nlm.nih.gov/pubmed/16427280
  Vajsar, in Neuromuscular Disorders, describe a diagnostic technique.

• Online Inheritance in Man

  http://omim.org/entry/253280
  Clinical features, genetics, and a comment on possible presence outside Finland.

• Worldwide Distribution and Broader Clinical Spectrum of Muscle–Eye–Brain Disease

  http://hmg.oxfordjournals.org/content/12/5/527.full.pdf
  Taniguchi et al describe possible MEB cases in Japanese, Korean and Belgian patients.

Related Categories

• Home > Health > Conditions and Diseases > Neurological Disorders > Muscle Diseases > Muscular Dystrophies
• Home > Regional > Europe > Finland > Health > Conditions and Diseases

 

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