Global Variome shared LOVD

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Phenotype #0000237097 Individual ID 00311849 Associated disease MYOP Diagnosis/Initial muscle weakness Diagnosis/Definite - Phenotype details limb-girdle weakness; no asymmetrical weakness quadriceps; no distal weakness; calf atrophy; no neck muscle weakness; exercise-induced myalgia; no rhabdomyolysis, myoglobinuria; brother more severe limb‐girdle weakness with asymmetric weakness and atrophy quadriceps and gastrocnemius Inheritance Familial, autosomal recessive Age/Examination 57y (57 years) Age/Diagnosis - Age/Onset 33y 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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