Phenotype #0000353130

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00467978
Associated disease	NMD
Diagnosis/Initial	neuromuscular disorder
Diagnosis/Definite	-
Phenotype details	serum CPK level 12575 U/L; muscle biopsy atrophic fibers of various diameters were found, internalization of the nucleus, excess connective and fatty tissue from degenerative changes, normal dystrophin expression
Inheritance	Unknown
Age/Examination	38y (38 years)
Age/Diagnosis	-
Age/Onset	14y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-11-04 16:13:53 +01:00 (CET)
Date last edited	N/A

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