Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000085918 Individual ID 00108324 Associated disease RMD2 Phenotype details rippling, PIRCs, weakness proximal upper & lower limbs, mild hypertrophy, no pain, EMG myopathic features; CPK 1400 Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <8y Phenotype/Onset tip toe walking & waddling gait Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-09-29 23:21:03 +02:00 (CEST) Date last edited 2017-03-31 14:13:45 +02:00 (CEST)

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