Global Variome shared LOVD

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

Phenotype #0000237096 Individual ID 00311848 Associated disease MYOP Phenotype details limb-girdle weakness; no asymmetrical weakness quadriceps; no distal weakness; no calf atrophy; no neck muscle weakness; exercise-induced myalgia; no rhabdomyolysis, myoglobinuria Diagnosis/Initial muscle weakness Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 51y (51 years) Age/Diagnosis - Age/Onset 24y Phenotype/Onset asymptomatic hyperCKemia Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-29 11:54:02 +02:00 (CEST) Date last edited N/A

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