Global Variome shared LOVD

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Phenotype #0000238420 Individual ID 00314632 Associated disease LGMD Phenotype details gait on tiptoes; raised CK (10-50x); 21y-still ambulant; shoulder abductor 3, shoulder adductor 4, elbow flexors 3, elbow extensors 4; distal muscles upper extremities normal; hip flexors 2, hip extensors 4, hip abductors 4, hip adductors 3, knee flexors 4, knee extensors 4; dorsal flexors 4, dorsal toe flexors 4, plantar toe flexors 4; asymmetry muscle strength; scapular winging; hyperlordosis; contractures ankles Diagnosis/Initial limb girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2A Age/Examination 21y (21 years) Age/Diagnosis - Age/Onset 11y Phenotype/Onset gait on tiptoes Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-10-12 20:32:46 +02:00 (CEST) Date last edited N/A

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