Global Variome shared LOVD

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Phenotype #0000082297 Individual ID 00104365 Associated disease RSMD Phenotype details unspecific with fiber size variability; 13y-scoliosis; 15y-proximal muscle weakness, slow progression, walk 500–1000m; 10y-intermittend ventilation night; FVC 10y 33% Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 2y Phenotype/Onset motor devevelopment delay 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 2013-02-01 19:44:13 +01:00 (CET)

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