Global Variome shared LOVD

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

Phenotype #0000358219 Individual ID 00473424 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details onset 35y, Difficulty climbing steps; Proximal muscle weakness, upper>lower limbs, Lt>Rt; Calf hypertrophy, Rt>Lt; Gowers sign; Difficulty heel walking; EMG: compatible with asymmetrical myopathic process; Increased level of CPK; Rimmed vacuoles in muscle biopsy Inheritance Familial, X-linked Age/Examination 41y (41 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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