Global Variome shared LOVD

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

Phenotype #0000357874 Individual ID 00473079 Associated disease MYOP Diagnosis/Initial myopathy Diagnosis/Definite - Phenotype details onset from 6.5y with gait abnormality & bilateral foot drop; Neck muscle weakness; Generalized muscle weakness, progressive, upper/lower, proximal & axial, right>left; Lordosis; Muscle cramps; Muscle biopsy suggestive of inflammatory myopathy and some chronic dystrophic process such as FSHD; EMG: generalize myogenic pattern, R/O Polymyositis. Inheritance Unknown Age/Examination 7y (7 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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