Phenotype #0000173133

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00230653
Associated disease	MYOP
Phenotype details	see paper; ..., lipid storage myopathy; 4m-respiratory insufficiency, lipid myopathy, decreased activities of mitochondrial complexes I and IV; 8m-died
Diagnosis/Initial	lipid storage myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	LSMFLAD
Age/Examination	-
Age/Diagnosis	-
Age/Onset	00y04m
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-04-19 08:40:01 +02:00 (CEST)
Date last edited	N/A

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