Phenotype #0000343646

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00455049
Associated disease	LGMD2
Phenotype details	see paper; ..., ambulant (waddling gait); no facial weakness, arrythmia; no pseudohypertrophy, atrophy; elevated CK level (7x)
Diagnosis/Initial	limb-girdle muscular dystrophy
Diagnosis/Definite	LGMDR1
Inheritance	Familial, autosomal recessive
Age/Examination	76y (76 years)
Age/Onset	>18y
Phenotype/Onset	-
Age/Diagnosis	-
Protein	WB no CAPN3
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2024-10-01 13:29:04 +02:00 (CEST)
Date last edited	N/A

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