Phenotype #0000331960

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00442613
Associated disease	BTHLM
Diagnosis/Initial	Bethlem myopathy
Diagnosis/Definite	BTHLM1
Phenotype details	CK <170 IU/L; MRI muscle typical; muscle biopsy lobulated fibers; onset childhood; weakness facial, cervical, proximal UL and LL; contractures wrists, interphalangeal, ankles; scoliosis; no cutaneous alterations; non invasive mechanical ventilation
Inheritance	Unknown
Age/Examination	-
Age/Diagnosis	43y
Age/Onset	-
Phenotype/Onset	floppy newborn
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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