Phenotype #0000125064

Individual ID 00102200
Associated disease MDC
Phenotype details dystrophy, muscular, congenital; severe progressive kyphoscoliosis, chest deformity, hip/ankle contractures, severe respiratory insufficiency necessitating nocturnal ventilation; hypodensity white matter; CPK: 321-1585 U/L (<200 U/L); no mental retardation; max. few steps with support
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite MDC-1A
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset 0d
Phenotype/Onset mild hypotonia, arthrogryposis
Protein IHC no LAMA2
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 2007-10-08 08:33:43 +02:00 (CEST)
Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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