Phenotype #0000281592

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00387999
Associated disease	LGMD
Phenotype details	HP:0003701 (proximal muscle weakness); difficulty getting up from ground and climbing stairs, calf hypertrophy; most-affected muscles hip and knee extensors, ankle dorsiflexors
Diagnosis/Initial	LGMD2D
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	13y (13 years)
Age/Diagnosis	13y
Age/Onset	-
Phenotype/Onset	-
Protein	IHC no SGCA
Owner name	Micaela Carcione
Database submission license
Created by	Micaela Carcione
Date created	2021-11-01 16:46:46 +01:00 (CET)
Date last edited	2021-11-04 15:19:49 +01:00 (CET)

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