Phenotype #0000303964

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00411937
Associated disease	myotonia
Phenotype details	myotonia; EMG myotonia; no warm-up phenomenon/paradoxical myotonia; myopathy hands, myopathy lower limbs; no muscle weakness; muscle hypertrophy proximal upper limbs; myopathy painful; no episodic paralysis
Diagnosis/Initial	non-dystrophic myotonia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	27y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-06-20 13:19:24 +02:00 (CEST)
Date last edited	N/A

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