Global Variome shared LOVD

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Phenotype #0000165770 Individual ID 00217320 Associated disease MMEO Phenotype details MmD; minicores in muscle biopsy; limitation external eye movements (ophthalmoplegia) ; CPK not elevated (-HP:0003236); FVC 0.36; walk 3y, not walking 12y Diagnosis/Initial minicore myopathy Inheritance Isolated (sporadic) Diagnosis/Definite MMD Age/Examination - Age/Diagnosis - Age/Onset 0y Phenotype/Onset neontal hypotonia, delayed motor development Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-11-01 22:02:20 +01:00 (CET) Date last edited 2012-03-09 19:02:29 +01:00 (CET)

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