Global Variome shared LOVD

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

Phenotype #0000221939 Individual ID 00288202 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details heart murmur, muscle cramps, difficulty walking, myalgia, skeletal muscle atrophy, gowers sign, progressive muscle weakness, myopathy, generalized amyotrophy, intention tremor, pain, waddling gait, decreased testosterone Inheritance Familial, autosomal recessive Age/Examination 45y (45 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-02-16 14:03:09 +01:00 (CET) Date last edited N/A

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