Phenotype #0000282179

Individual ID 00388639
Associated disease MYOP
Phenotype details distal muscle weakness, proximal muscle weakness; CK level 587 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; no cardiac involvement; 27y-ambulant
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 27y (27 years)
Age/Diagnosis -
Age/Onset 23y
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 2021-11-04 21:32:43 +01:00 (CET)

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