Global Variome shared LOVD

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Phenotype #0000288829 Individual ID 00395630 Associated disease LGMD Phenotype details lower limbs proximal MRC 2-3, lower limbs distal MRC 5, upper limbs proximal MRC 4, upper limbs distal MRC 5, CK level normal, scapular winging, FVC >0.80, not wheelchair bound; hyperlordosis Diagnosis/Initial LGMD, adult onset Inheritance Familial, autosomal recessive Diagnosis/Definite LGMDR21 Age/Examination 38y (38 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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