Global Variome shared LOVD

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Phenotype #0000170712 Individual ID 00225600 Associated disease LGMD Phenotype details walking 30m; raised CPK (47x); dystrophic muscle pathology; 9y-lost ambulation; 18y- no cardiac/respiratory complications Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2I Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset delayed walking Protein DMD/SGC normal Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-02-18 20:04:21 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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