Phenotype #0000159924

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00211442
Associated disease	MFM
Phenotype details	progressive weakness (proximal > distal), decreased leg reflexes; peripheral neuropathy; no cardiac involvement; EMG myopathic andneurogenic MUPs, fibrillation potentials; CPK raised 1.2x
Diagnosis/Initial	myofibrillar myopathy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	MFM
Age/Examination	-
Age/Onset	-
Phenotype/Onset	-
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	2012-03-04 15:57:43 +01:00 (CET)

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