Phenotype #0000139602

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00174775
Associated disease	LGMD
Phenotype details	onset overt symptoms early adulthood; CPK raised 54x; progressive lower limb and right arm weakness; Miyoshi myopathy phenotype - calf atrophy and weakness; ambulation preserved, cannot stand on toes
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	27y (27 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2018-08-10 19:10:48 +02:00 (CEST)
Date last edited	N/A

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