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Worldwide Distribution and Broader Clinical Spectrum of Muscle–Eye–Brain Disease
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http://hmg.oxfordjournals.org/cgi/reprint/12/5/527.pdf
Taniguchi et al describe possible MEB cases in Japanese, Korean and Belgian patients.
Online Inheritance in Man
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http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253280
Clinical features, genetics, and a comment on possible presence outside Finland.
Carriers and Patients with Muscle-Eye-Brain Disease Can Be Rapidly Diagnosed by Enzymatic Analysis of Fibroblasts and Lymphoblasts
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http://www.ncbi.nlm.nih.gov/pubmed/16427280
Vajsar, in Neuromuscular Disorders, describe a diagnostic technique.
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