Phenotype #0000153621

Individual ID 00205440
Associated disease LGMD1
Phenotype details muscle weakness not proximal upper limbs, muscle weakness proximal lower limbs moderate, distal lower limbs posterior > anterior; EMG myopathic; no cardiac involvement, no respiratory failure; elevated serum creatine phosphokinase (HP:0003236) normal - 8x
Diagnosis/Initial limb-girdle muscular dystrophy, autosomal dominant
Inheritance Familial, autosomal dominant
Diagnosis/Definite LGMD-1E
Age/Examination -
Age/Diagnosis -
Age/Onset 30y-55y
Phenotype/Onset -
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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