Global Variome shared LOVD

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Phenotype #0000082295 Individual ID 00104363 Associated disease RSMD Phenotype details myopathic with unspecific changes; 18y-scoliosis, rigid spine syndrome; 21y-proximal muscle weakness, slow progression, walk>4000m; not ventilated; FVC 13y 62% Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 1y Phenotype/Onset hypotonia, lack of head control Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-02-22 18:29:25 +01:00 (CET) Date last edited 2012-03-09 18:27:00 +01:00 (CET)

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