Phenotype #0000343635

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00455038
Associated disease	LGMD2
Phenotype details	see paper; ..., ambulant; no facial weakness, no cardiac anomalies; pseudohypertrophy, atrophy; no scoliosis; elevated CK level (20x); EMG myopathic
Diagnosis/Initial	limb-girdle muscular dystrophy
Diagnosis/Definite	LGMDR1
Inheritance	Familial, autosomal recessive
Age/Examination	37y (37 years)
Age/Onset	17y
Phenotype/Onset	-
Age/Diagnosis	-
Protein	-
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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