Global Variome shared LOVD

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Phenotype #0000237092 Individual ID 00311844 Associated disease MYOP Phenotype details limb-girdle weakness; asymmetrical weakness quadriceps; no distal weakness; calf atrophy; mild neck muscle weakness distal greater than proximal; no exercise-induced myalgia; no rhabdomyolysis, myoglobinuria Diagnosis/Initial muscle weakness Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 45y (45 years) Age/Diagnosis - Age/Onset 38y Phenotype/Onset asymmetric muscle atrophy with normal strength 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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