Global Variome shared LOVD

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

Phenotype #0000162936 Individual ID 00214484 Associated disease LGMD Phenotype details cramps, myalgia last five years; CPK elevated (HP:0003236) 1520; proximal muscle weakness lower extremities, involvement proximal muscles upper limb/shoulder girdle at presentation, no cardiac involvement Diagnosis/Initial limb-girdle muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2A Age/Examination - Age/Diagnosis - Age/Onset 16y Phenotype/Onset coincedence hCK Protein CAPN3 reduced Owner name Ieke Ginjaar Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-10-09 08:29:33 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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