Phenotype #0000358082

Individual ID	00473287
Associated disease	MYOP
Diagnosis/Initial	myopathy
Diagnosis/Definite	-
Phenotype details	age 14y , onset 7y affected deceased mother (Suspected to muscular dystrophy or polymyositis), standing, climbing and running difficulty, positive Gower’s sign, muscular dystrophy reported in muscle biopsy. Normal EMG, normal echocardiography, negative IHC report for all examined antibodies, slightly elevated CPK, calf atrophy in muscle MRI.
Inheritance	Familial, autosomal recessive
Age/Examination	14y (14 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