Phenotype #0000153592

Individual ID 00205408
Associated disease MYOP
Phenotype details mild myopathy, sever learning difficulties, facial hypotonia, oral-motor dyspraxia, subcortical white matter anomalies; muscle nonspecific abnormal findings, some atrophic fibres/type 1 fibre predominance; small amount fibre regeneration (occasional staining neonatal myosin); elevated serum creatine phosphokinase (HP:0003236) ; still walking >16y
Diagnosis/Initial myopathy
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein IHC normal DAG1, UTRN, LAMA2, LAMA5, SGCA, SGCB, SGCD, SGCG
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 2011-03-25 18:07:54 +01:00 (CET)
Date last edited 2013-02-01 19:44:08 +01:00 (CET)

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