Global Variome shared LOVD

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Phenotype #0000238360 Individual ID 00314572 Associated disease LGMD Phenotype details 29y-loss ambulation; no calf hypertrophy; 1, ; winging scapulae; no scoliosis; lordosis; serum CK 3900 (U/L); dysferlinopathy; EMG myopathic features Diagnosis/Initial limb girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2B Age/Examination - Age/Diagnosis - Age/Onset 19y 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 2020-10-12 17:29:43 +02:00 (CEST) Date last edited N/A

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