Global Variome shared LOVD

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

Phenotype #0000324251 Individual ID 00433873 Associated disease MD Phenotype details elevated creatine kinase; no muscle weakness; myalgias; no exercise intolerance; muscle biopsy internalized nuclei and focal areas of inflammation involving connective tissue, mild to moderate fiber atrophy without regeneration, findings suggested myositis; no cognitive impairment Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 40y-50y Age/Diagnosis - Age/Onset - 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 2023-03-15 17:16:36 +01:00 (CET) Date last edited N/A

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