Global Variome shared LOVD

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Phenotype #0000238429 Individual ID 00314641 Associated disease LGMD Phenotype details weakness of proximal leg muscles, difficulties walking on heels; raised CK (10x); 29y-lost ambulation; shoulder abductor 2, shoulder adductor 2, elbow flexors 2, elbow extensors 2; distal muscles upper extremities WE 4, FF 4, FE 4; hip flexors 2, hip extensors 2, hip abductors 2, hip adductors 2, knee flexors 3, knee extensors 3; dorsal flexors 2, plantar flexors 4, dorsal toe flexors 2, plantar toe flexors 4; no asymmetry muscle strength; scapular winging; no spine deformities; contractures ankles, elbows Diagnosis/Initial limb girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2A Age/Examination 29y (29 years) Age/Diagnosis - Age/Onset 14y Phenotype/Onset weakness of proximal leg muscles, difficulties walking on heels 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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