Phenotype #0000153623

Individual ID	00205442
Associated disease	MYOP
Phenotype details	distal muscle wasting legs/arms, severe distal weakness, mild-moderate proximal weakness ; NCS small CMAPs, normal SNAPs; EMG fibs, PSW with narrow, short-amplitude MUP and early recruitment; elevated serum creatine phosphokinase (HP:0003236) 278; 45y-lost ability to walk (HP:0006957)
Diagnosis/Initial	myopathy
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	25y
Phenotype/Onset	initially developed tripping, progressive distal weakness
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2012-04-02 22:51:22 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD