Phenotype #0000289348

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00396182
Associated disease	LGMD
Phenotype details	10y-wheelchair bound; distal weakness; no cardiopathy; no ventilation
Diagnosis/Initial	limb-girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2F
Age/Examination	17y (17 years)
Age/Diagnosis	-
Age/Onset	6y
Phenotype/Onset	-
Protein	IHQ/IF reduced sarcoglycan complex, SGCD detected
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-12-15 10:01:23 +01:00 (CET)
Date last edited	N/A

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