Phenotype #0000125125

Individual ID 00102161
Associated disease MDC
Phenotype details muscular weakness with facial/bulbar paresis and slight improvement in motor function; contractures knees; no seizures; MRI brain white matter changes, no gyral abnormalities; CPK: 1156; no mental retardation; sit
Diagnosis/Initial dystrophy, muscular, congenital
Diagnosis/Definite MDC-1A
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset 0d
Phenotype/Onset hypotonia
Protein IHC no LAMA2
Owner name Rosário dos Santos
Database submission license No license selected
Created by Rosário dos Santos
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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