Phenotype #0000058656

Individual ID 00078900
Associated disease MYOP
Phenotype details myopathy, congenital; worsening exercise tolerance (ambulation independent); mild distal only weakness; ; no eye muscle involvement, no respiratory involvement, no cardiac involvement; required special education; myalgias and muscle cramping; normal EMG; fiber atrophy (type I and II), core-like areas; mild MR; normal CPK (-HP:0003236); DES positive cytoplasmic staining
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset increased falls, abnormal gait
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 2012-09-07 15:20:17 +02:00 (CEST)
Date last edited 2012-09-07 15:28:13 +02:00 (CEST)

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