Phenotype #0000282231

Individual ID 00388691
Associated disease MYOP
Phenotype details proximal muscle weakness; CK level 10500 IU/L; Difficulty running, change in gait, wasting of calves, biceps lump; Most-affected muscles: Gastrocnemius, Iliopsoas, hip adductors, hamstrings and quadriceps; no cardiac involvement; 24y-ambulant
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 24y (24 years)
Age/Diagnosis -
Age/Onset 19y
Phenotype/Onset -
Protein IHC no DYSF
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 2021-11-04 21:18:04 +01:00 (CET)

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