Phenotype #0000161638

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00213163
Associated disease	LGMD
Phenotype details	5y-weakness early childhood, difficulty climbing stairs, behind peers in running, Gower's sign, muslce not hypertrophic, muscle biopsy dystrophic changes; walk-2.5y; CPK 3704
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	LGMD2O
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	IHC LAMA2, DMD, SGCA/B/G/D normal
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2010-12-12 22:17:00 +01:00 (CET)
Date last edited	2020-10-04 11:04:50 +02:00 (CEST)

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