Phenotype #0000162048

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00213594
Associated disease	NEM
Phenotype details	muscle soreness, no facial weakness, asymmetry, lower limbs weaker than upper, progression, proximal and distal weakness ; wheelchair bound >70y
Diagnosis/Initial	nemaline myopathy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	NEM-1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Minttu Marttila
Database submission license
Created by	Johan den Dunnen
Date created	2013-08-28 13:50:55 +02:00 (CEST)
Date last edited	2013-08-31 16:44:12 +02:00 (CEST)

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