Phenotype #0000282184

Individual ID	00388644
Associated disease	MYOP
Phenotype details	distal muscle weakness, proximal muscle weakness; CK level 209 IU/L; Rimmed vacuoles in muscle biopsies histochemistry; tripping on small objects, foot drop and sparing of quadriceps; most-affected muscles: Tibialis anterior, iliopsoas, adductors of thigh, hamstrings, and biceps brachi and first dorsal interosseous muscles
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	26y (26 years)
Age/Diagnosis	-
Age/Onset	23y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-11-04 20:51:09 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD