Global Variome shared LOVD

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Phenotype #0000238419 Individual ID 00314631 Associated disease LGMD Phenotype details difficulties climbing stairs; raised CK (10x); 37y-still ambulant; shoulder abductor 4, shoulder adductor 4, elbow flexors 3; distal muscles upper extremities normal; hip flexors 1, hip extensors 4, hip abductors 3, hip adductors 2, knee flexors 3, knee extensors 4; normal distal muscles lower extremities; asymmetry muscle strength; scapular winging; hyperlordosis; contractures ankles Diagnosis/Initial limb girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2A Age/Examination 37y (37 years) Age/Diagnosis - Age/Onset 19y Phenotype/Onset difficulties climbing stairs 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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