Global Variome shared LOVD

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Phenotype #0000058497 Individual ID 00078738 Associated disease LGMDR12;LGMD2L Phenotype details iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles atrophy, distal weakness calf muscles 4/5; raised CPK (HP:0003236) 8081; >43y walking (-HP:0006957) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 43y (43 years) Age/Diagnosis - Age/Onset 20y 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 2010-02-14 22:37:07 +01:00 (CET) Date last edited 2013-02-19 22:46:21 +01:00 (CET)

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