Global Variome shared LOVD

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Phenotype #0000162962 Individual ID 00214510 Associated disease LGMD Phenotype details late onset, shoulder; CPK elevated (HP:0003236) Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein WB CAPN3 normal, altered autocatalytic activity Owner name Marina Fanin Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-12-28 12:02:22 +01:00 (CET) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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