Global Variome shared LOVD

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

Phenotype #0000153636 Individual ID 00205459 Associated disease EDMD Phenotype details muscle weakness/wasting LL (pelvic); stiff neck, contractures ankle/shoulders, muscle hypertrophy (paravertebral and shoulders); elevated serum creatine phosphokinase (HP:0003236) 2.5x Diagnosis/Initial Emery-Dreifuss muscular dystrophy Inheritance Familial Diagnosis/Definite EDMD-6 Age/Examination - Age/Onset 48y Phenotype/Onset difficulties climbing stairs / get up from squatting position Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-09-11 20:47:21 +02:00 (CEST) Date last edited 2012-03-04 15:57:33 +01:00 (CET)

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