Phenotype #0000282236

Individual ID 00388696
Associated disease MYOP
Phenotype details distal muscle weakness, proximal muscle weakness; CK level 1880 IU/L; Rimmed vacuoles in muscle biopsies histochemistry; Tripping on small objects, foot drop and sparing of quadriceps; Most-affected muscles: Tibialis anterior, iliopsoas, adductors of thigh, hamstrings and biceps brachi and first dorsal interosseous muscles
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 36y (36 years)
Age/Diagnosis -
Age/Onset 34y
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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