Global Variome shared LOVD

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Phenotype #0000153609 Individual ID 00205428 Associated disease LGMD1 Phenotype details muscle weakness proximal upper limbs mild/moderate, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) 2-3x Diagnosis/Initial limb-girdle muscular dystrophy, autosomal dominant Inheritance Familial, autosomal dominant Diagnosis/Definite LGMD-1E Age/Examination - Age/Diagnosis - Age/Onset 45y-50y 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 2012-04-02 22:51:22 +02:00 (CEST) Date last edited N/A

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