Global Variome shared LOVD

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Phenotype #0000139570 Individual ID 00174743 Associated disease LGMD Phenotype details onset overt symptoms early adulthood; CPK raised 19x; progressive limb-girdle weakness with myalgia, exercise intolerance, fatigability; thigh muscle atrophy, knee hyperextension; ambulation difficult with 2 crutches Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 54y (54 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 2018-08-10 19:10:48 +02:00 (CEST) Date last edited N/A

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