Global Variome shared LOVD

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

Phenotype #0000153642 Individual ID 00205465 Associated disease XMPMA;EDMD6 Phenotype details EMG myopathic; early athletic habitus; musle biopsy myopathic; respiratory failure; neck and Achilles tendons short; elevated serum creatine phosphokinase (HP:0003236) 800-1200 Diagnosis/Initial myopathy, X-linked, with postural muscle atrophy Inheritance Familial Diagnosis/Definite XMPMA Age/Examination - Age/Diagnosis - Age/Onset 30y Phenotype/Onset - 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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