Phenotype #0000331986

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00442639
Associated disease	NMD
Diagnosis/Initial	Faciobulbar and limb-girdle muscle weakness since birth
Diagnosis/Definite	-
Phenotype details	Muscle weakness: Limbs 5, a 3–5; slight ophthalmoplegia, reduced respiratory function (84%); muscle biopsy: increase in fiber size variation, increase in internal nuclei; CK = 965 U/I
Inheritance	Familial, autosomal dominant
Age/Examination	32y (32 years)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-23 18:48:51 +01:00 (CET)
Date last edited	N/A

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