Phenotype #0000053383

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00073643
Associated disease	MMD
Phenotype details	Elevated serum creatine phosphokinase (HP:0003236), Difficulty running (HP:0009046), Ring fibers (HP:0100305), Muscle fiber necrosis (HP:0003713)
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	24y (24 years)
Age/Diagnosis	-
Age/Onset	18y
Phenotype/Onset	Difficulty running (HP:0009046)
Protein	-
Owner name	Pieter Klap
Database submission license	No license selected
Created by	Pieter Klap
Date created	2016-06-13 12:38:10 +02:00 (CEST)
Date last edited	2016-10-11 12:31:54 +02:00 (CEST)

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