Phenotype #0000282210

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00388670
Associated disease	MYOP
Phenotype details	proximal muscle weakness; CK level 791 IU/L; Tripping and toe walking, Winging of scapula, wrist and ankle contractures; Most-affected muscles: Biceps brachii, ankle dorsiflexors; no cardiac involvement; 11y-ambulant
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	04y
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	2021-11-04 21:33:59 +01:00 (CET)

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