Phenotype #0000303968

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00411941
Associated disease	myotonia
Phenotype details	myotonia; EMG myotonia; warm-up phenomenon; myopathy eyes, myopathy hands; muscle weakness tongue, dist upper limbs; muscle hypertrophy low limbs; myopathy not painful; no episodic paralysis
Diagnosis/Initial	non-dystrophic myotonia
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Onset	30y
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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