Global Variome shared LOVD

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Phenotype #0000238427 Individual ID 00314639 Associated disease LGMD Phenotype details weakness of proximal leg muscles; raised CK (>50x); 19y-lost ambulation; shoulder abductor 2, shoulder adductor 3, elbow flexors 3, elbow extensors 3; distal muscles upper extremities normal; hip flexors 2, hip extensors 2, hip abductors 2, hip adductors 2, knee flexors 2, knee extensors 2; dorsal flexors 2, plantar flexors 2, dorsal toe flexors 2, plantar toe flexors 2; no asymmetry muscle strength; scapular winging; hyperlordosis; contractures ankles Diagnosis/Initial limb girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2A Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset 7y Phenotype/Onset weakness of proximal leg muscles 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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