Phenotype #0000282228

Individual ID 00388688
Associated disease MYOP
Phenotype details proximal muscle weakness; CK level 1786 IU/L; Soleus and Medial Gastrocnemius muscle MRI showing fatty replacement and atrophy; Toe walking, difficulty climbing stairs and getting up from ground, Winging of scapula and tendo-achilis contractures; Most affected muscles: Serratus anterior, Hip adductors, iliopsoas, hamstrings and tibialis anterior
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 29y (29 years)
Age/Diagnosis -
Age/Onset 25y
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 2021-11-04 20:51:09 +01:00 (CET)
Date last edited N/A

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