Phenotype #0000321452

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00430677
Associated disease	MYOP
Phenotype details	bulbar and asymmetric limb weakness, fasciculations, myotonia, upper motor neuron signs later; raised CK level 654 IU/L; electrodiagnosis mixed neurogenic>myopathic changes, fasciculation and fibrillation potentials, myotonic discharges
Diagnosis/Initial	myotonic dystrophy
Inheritance	Unknown
Diagnosis/Definite	DM2; ALS
Age/Examination	68y (68 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-01-22 15:18:59 +01:00 (CET)
Date last edited	N/A

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