Global Variome shared LOVD

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Phenotype #0000364355 Individual ID 00479842 Associated disease MYOP Diagnosis/Initial myofibrillar myopathy Diagnosis/Definite - Phenotype details see paper; ..., proximal upper limb weakness; no distal upper limb weakness; proximal lower limb weakness; distal lower limb weakness; no ptosis; axial weakness; scapular winging; no dysphagia; no dysphonia; no respiratory involvement; complete atrioventricular conduction block, pace maker; no polyneuropathy; no hearing impairment; normal serum creatine kinase level Inheritance Familial, autosomal dominant Age/Examination 72y (72 years) Age/Diagnosis - Age/Onset 60y Phenotype/Onset syncopes Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-05-19 09:46:55 +02:00 (CEST) Date last edited N/A

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