Global Variome shared LOVD
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Phenotype #0000159944
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
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
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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