Phenotype #0000331979

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00442632
Associated disease	NMD
Diagnosis/Initial	Myalgia, silent muscle cramps, asthma, unilateral deafness
Diagnosis/Definite	-
Phenotype details	Limb-girdle weakness; muscle biopsy: increase in fiber type variation (type 1 predominance) and increase in internal nuclei, sporadic necrotic fibers and signs of regeneration; CK = 1732 U/l
Inheritance	Familial, autosomal recessive
Age/Examination	44y (44 years)
Age/Diagnosis	-
Age/Onset	42y
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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