Global Variome shared LOVD

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

Phenotype #0000171332 Individual ID 00183402 Associated disease MYOP Phenotype details onset juvenile, shoulder and pelvic girdle weakness, severe proximal muscle weakness, wheelchair bound, elevated CPK (3x), EMG myopathic, biopsy dystrophic features, mild respiratory insufficiency Diagnosis/Initial myopathy Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset shoulder and pelvic girdle weakness Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2019-03-02 18:00:33 +01:00 (CET) Date last edited N/A

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