Phenotype #0000237062

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00311807
Associated disease	MYOP
Phenotype details	see paper; ..., proxo-distal motor deficit lower limbs, calf size asymmetry, scapular winging; raised CK 987 UI/L; EMG myogenic; pulmonary evaluation normal
Diagnosis/Initial	myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	88y (88 years)
Age/Diagnosis	-
Age/Onset	85y
Phenotype/Onset	progressive walking difficulties
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-09-29 08:58:13 +02:00 (CEST)
Date last edited	N/A

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