Global Variome shared LOVD

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Phenotype #0000288822 Individual ID 00395623 Associated disease LGMD Phenotype details lower limbs proximal MRC 2, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC 0.91, not wheelchair bound Diagnosis/Initial LGMD, adult onset Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR21 Age/Examination 50y (50 years) Age/Diagnosis - Age/Onset 20y-30y 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 2021-12-08 15:59:29 +01:00 (CET) Date last edited N/A

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