Phenotype #0000358224

Individual ID	00473429
Associated disease	MYOP
Diagnosis/Initial	myopathy
Diagnosis/Definite	-
Phenotype details	Sporadic case, 48y old, progressive proximal lower muscle weakness started 14y , distal lower muscle weakness, proximal upper muscle weakness, walking inability, axial weakness and rigid spine, myopathic face ,normal CPK, non irritable myopathy reported in EDX and increased predominantly internalized nuclei, inter myofibrillar network disruption as lobulated -like fibers suggestive chronic dystrphic pattern reported in muscle biopsy.
Inheritance	Familial, autosomal recessive
Age/Examination	48y (48 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-03-06 17:24:40 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD