Phenotype #0000351459

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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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
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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