Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000162737 Individual ID 00214285 Associated disease LGMD Phenotype details no contractures, scapular winging, ECG normal, echocardiography normal; CPK elevated (HP:0003236) 1632; FVC 0.85 Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Unknown Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 25y Phenotype/Onset first symptoms upper limbs Protein WB CAPN3 normal (30 kDa slightly reduced), putatively altered autocatalytic activity Owner name Lab Müller-Reible Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2007-08-17 16:05:58 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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