Global Variome shared LOVD

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

Phenotype #0000058524 Individual ID 00078765 Associated disease LGMD Phenotype details unable walk on toes; unable walk on heels; muscle atrophy severe wasting LL muscles; scapular winging (assymetry); raised CPK (HP:0003236) 2900-3500; progressive inability to walk (HP:0002505) severely restricted Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 49y (49 years) Age/Diagnosis - Age/Onset <40y Phenotype/Onset difficulty walking Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-03-18 19:43:55 +01:00 (CET) Date last edited 2013-02-19 22:46:21 +01:00 (CET)

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