Phenotype #0000331963

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00442616
Associated disease	BTHLM
Diagnosis/Initial	Bethlem myopathy
Diagnosis/Definite	-
Phenotype details	CK 2800 IU/L; MRI muscle unilateral medial gastrocnemius peripheral infiltration; muscle biopsy minimum non-specific changes; no weaknes; contractures interphalangeal, ankles; no scoliosis; no cutaneous alterations; no entilatory insufficiency
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	31y
Age/Onset	-
Phenotype/Onset	hyperckemia
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-23 09:55:12 +01:00 (CET)
Date last edited	N/A

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