Phenotype #0000159944

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00211462
Associated disease	MFM
Phenotype details	45y-tripping; muscle weakness distal legs 0-2, hands 4, hip flexion and extension 3, walks with DAFO; muscle atrophy lower legs, hands and feet interosseus, thenar and hypothenar, minor in distal forearm
Diagnosis/Initial	myofibrillar myopathy
Inheritance	Unknown
Diagnosis/Definite	MFM
Age/Examination	-
Age/Onset	39y
Phenotype/Onset	ankle jerks
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2010-01-24 15:43:12 +01:00 (CET)
Date last edited	2013-02-01 19:44:12 +01:00 (CET)

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