Phenotype #0000172198

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00228254
Associated disease	BMD
Phenotype details	see paper; ..., fatigability, myalgia, stiffness, percussion-induced muscle mounding, stressed percussion-induced rapid contraction, rippling, calf hypertrophy, elevated CK (4452)
Diagnosis/Initial	Becker muscular dystrophy
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	BMD
Age/Examination	12y (12 years)
Age/Onset	-
Phenotype/Onset	-
Age/Diagnosis	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-03-22 14:52:15 +01:00 (CET)
Date last edited	N/A

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