Phenotype #0000119597

Individual ID 00146625
Associated disease MDC
Phenotype details lost ambulation 6y; CPK 7760
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite MDC-1C
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset <1y
Phenotype/Onset -
Protein LAMA2 reduced/absent (80/300), DAG1 virtually absent, DMD and SGCs normal
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 2007-08-31 17:44:39 +02:00 (CEST)
Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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