Global Variome shared LOVD

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Phenotype #0000162647 Individual ID 00214195 Associated disease LGMD Phenotype details severe; lost ability to walk (HP:0006957) 17y Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 10y Phenotype/Onset - Protein WB CAPN3 reduced, DYSF, SGCs, TCAP normal Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-17 16:05:57 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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