Carriers and Patients with Muscle-Eye-Brain Disease Can Be Rapidly Diagnosed by Enzymatic Analysis of Fibroblasts and Lymphoblasts
- Vajsar, in Neuromuscular Disorders, describe a diagnostic technique.
- http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&list_uids=16427280

Worldwide Distribution and Broader Clinical Spectrum of Muscle–Eye–Brain Disease
- Taniguchi et al describe possible MEB cases in Japanese, Korean and Belgian patients.
- http://hmg.oxfordjournals.org/cgi/reprint/12/5/527.pdf

Online Inheritance in Man
- Clinical features, genetics, and a comment on possible presence outside Finland.
- http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=253280