Global Variome shared LOVD

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

Phenotype #0000204150 Individual ID 00266381 Associated disease TAM1 Phenotype details Axial muscle weakness, myalgia, diabetes, hypertension, lipodystrophy, coronary artery disease. Muscle biopsy: tubular aggregates, fiber size variability, type I fiber predominance, internal nuclei Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite TAM-1 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johann Böhm Database submission license No license selected Created by Johann Böhm Date created 2019-10-25 11:21:11 +02:00 (CEST) Date last edited N/A

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