Phenotype #0000153619

Individual ID 00205438
Associated disease LGMD1
Phenotype details mild proximal predominant weakness lower extremities; EMG fibs, PSW, increased insertional activity, with early recruitment small-amplitude narrow-duration MUPs in iliopsoas/quadriceps muscles; elevated serum creatine phosphokinase (HP:0003236) 742; still walking >41y
Diagnosis/Initial limb-girdle muscular dystrophy, autosomal dominant
Inheritance Familial, autosomal dominant
Diagnosis/Definite LGMD-1E
Age/Examination -
Age/Diagnosis -
Age/Onset 35y
Phenotype/Onset trouble climbing stairs/rising from sitting position
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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