Global Variome shared LOVD

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

Phenotype #0000282246 Individual ID 00388706 Associated disease MYOP Phenotype details distal muscle weakness, proximal muscle weakness; CK level 1708 IU/L; difficulty getting up from ground, Calf hypertrophy; Most-affected muscles: Mild upper and lower girdle weakness Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset 25y 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 2021-11-04 20:51:09 +01:00 (CET) Date last edited N/A

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