Phenotype #0000242278

Individual ID	00320227
Associated disease	MYOP
Phenotype details	6y-proximal muscle weakness; slowly progressive childhood onset proximal weakness; CK 149 U/L; EMG myopathic; 43y-biopsy biceps, moderate variation in fiber size with increased number of internalized nuclei; evidence of ring fibers, moth-eaten and core-like fibers on NADH stain; ring- and necklace-like cytoplasmic bodies and rimmed vacuoles on trichrome stain; type 1 fiber predominance; 53y-ECG incomplete R bundle branch block
Diagnosis/Initial	myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	53y (53 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-11-24 18:44:14 +01:00 (CET)
Date last edited	2020-11-24 18:45:19 +01:00 (CET)

Global Variome shared LOVD