Global Variome shared LOVD

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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 International 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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