Global Variome shared LOVD

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

Phenotype #0000231405 Individual ID 00305558 Associated disease MD Phenotype details muscle weakness periscapular, proximal upper limbs, proximal lower limbs, distal upper limbs, distal lower limbs; 65y-wheel chair; elevated serum CK (1918 IU/L); 45y-EMG myopathic; resting ECG normal, ECG aortic valve stenosis; Holter monitoring nocturnal first-degree AV block; bicycle arm ergometer no increase heart rate during the test, borderline first-degree AV block; 45y-muscle biopsy myopathic (quadriceps) Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite LGMD2X Age/Examination 65y (65 years) Age/Diagnosis - Age/Onset 35y Phenotype/Onset proximal weakness lower limbs Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-06-29 18:22:20 +02:00 (CEST) Date last edited N/A

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