Phenotype #0000238380

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00314592
Associated disease	LGMD
Phenotype details	17y-ambulant; calf hypertrophy; no ankle contractures; winging scapulae; scoliosis; lordosis; serum CK 1600 (U/L); muscle biopsy dystrophic; EMG myopathic features
Diagnosis/Initial	limb girdle muscular dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LGMD2E
Age/Examination	-
Age/Diagnosis	-
Age/Onset	17y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-10-12 17:29:43 +02:00 (CEST)
Date last edited	N/A

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