Global Variome shared LOVD

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Phenotype #0000161958 Individual ID 00213495 Associated disease NEM Phenotype details mild form, asymmetric limb muscle involvement, mild facial and neck flexor weakness; deceased from respiratory causes; wheelchair bound 48y Diagnosis/Initial nemaline myopathy Inheritance Isolated (sporadic) Diagnosis/Definite NEM-4 Age/Examination - Age/Diagnosis - Age/Onset 12y Phenotype/Onset walking difficulty Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-09-27 18:44:57 +02:00 (CEST) Date last edited 2012-03-09 19:17:22 +01:00 (CET)

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