Phenotype #0000282224

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00388684
Associated disease	MYOP
Phenotype details	distal muscle weakness, proximal muscle weakness; CK level 392 IU/L; difficulty getting up from ground; Difficulty walking on heels; Muscle most-affected: Hip adductors, iliopsoas, gluteus maximus and gastrocnemius
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	22y (22 years)
Age/Diagnosis	-
Age/Onset	17y
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

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