Phenotype #0000358751

Individual ID 00473956
Associated disease MYOP
Diagnosis/Initial myopathy
Diagnosis/Definite -
Phenotype details onset 12y, Generalized weakness; Difficulty walking; Respiratory problem; Seizures 18-mo; Achilles tendon contracture; Muscle weakness, lower & upper, proximal>distal; Weakness of the limb-girdle muscles; Mild atrophy of thenar & hypothenar muscles; Wheelchair bound; EMG-NCV: chronic myopathic process; Muscle biopsy: muscular dystrophy; Elevated level of CPK, Aldolase & LDH.
Inheritance Unknown
Age/Examination 22y (22 years)
Age/Diagnosis -
Age/Onset -
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 2026-03-06 17:24:40 +01:00 (CET)
Date last edited N/A

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