Phenotype #0000086035

Individual ID	00108441
Associated disease	RMD2
Phenotype details	generalised muscle weakness, exercise-related cramps/myalgias, hyperCKemia; 34y-muscular weakness (particularly severe ower limbs), calf/quadriceps muscle hypertrophy, percussion-induced muscle contractions; EMG absence spontaneous action potentials, normal nerve conduction velocity was normal; age onset childhood
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	generalised muscle weakness, exercise-related cramps/myalgias, hyperCKemia
Protein	IHC/WB no CAV3
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2012-04-15 15:58:24 +02:00 (CEST)
Date last edited	2019-08-02 19:40:52 +02:00 (CEST)

Global Variome shared LOVD