Phenotype #0000153624

Individual ID 00205443
Associated disease MYOP
Phenotype details diffuse lower extremity weakness, severe distal/moderate proximal upper extremity weakness; NCS small CMAPs, normal SNAPs; EMG fibs and PSW with narrow, short-amplitude MUP and early recruitment; elevated serum creatine phosphokinase (HP:0003236) 339; 53y-lost ability to walk (HP:0006957)
Diagnosis/Initial myopathy
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset 35y
Phenotype/Onset progressive gait difficulty
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-04-02 22:51:22 +02:00 (CEST)
Date last edited N/A

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