Global Variome shared LOVD

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

Phenotype #0000351459 Individual ID 00466073 Associated disease TAM2 Phenotype details Miosis, Rigid spine, Muscle weakness, Tubular aggregates in muscular biopsy, Increased serum creatine kinase. Reference: 25227914, 36806330, 29184031. Diagnosis/Initial Myopathy Inheritance Unknown Diagnosis/Definite MYOPATHY, TUBULAR AGGREGATE, 2; TAM2 Age/Examination 24y (24 years) Age/Diagnosis 24y Age/Onset 08y Phenotype/Onset Chilhood onset Protein elenagarciapayahgua Owner name Maria Elena García Paya Database submission license Creative Commons Attribution 4.0 International Created by Maria Elena García Paya Date created 2025-07-29 10:30:11 +02:00 (CEST) Date last edited 2025-08-01 14:08:05 +02:00 (CEST)

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