Phenotype #0000172206

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00228258
Associated disease	RMD2
Phenotype details	fatigability, myalgia, stiffness, no percussion-induced muscle mounding, no stressed percussion-induced rapid contraction, no rippling, calf hypertrophy, elevated CK (817)
Diagnosis/Initial	rippling muscle disease
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	RMD
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-03-22 15:05:36 +01:00 (CET)
Date last edited	N/A

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