Global Variome shared LOVD

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Phenotype #0000238338 Individual ID 00314550 Associated disease LGMD Phenotype details 26y-loss ambulation; no calf hypertrophy; no ankle contractures; winging scapulae; no scoliosis; lordosis; serum CK 558-1783 (U/L); muscle biopsy dystrophic; EMG-myopathic disorder Diagnosis/Initial limb girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 05y-09y 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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