Phenotype #0000282149

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00388609
Associated disease	MYOP
Phenotype details	proximal muscle weakness; CK level 3200 IU/L; difficulty running, change in gait, wasting of calves, biceps lump; most-affected muscles: Gastrocnemius, Iliopsoas, hip adductors, hamstrings, and quadriceps
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	35y (35 years)
Age/Diagnosis	-
Age/Onset	20y
Phenotype/Onset	-
Protein	IHC no DYSF
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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