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 Diagnosis/Initial myopathy Diagnosis/Definite - 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 Inheritance Unknown 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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