Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000125288 Individual ID 00102500 Associated disease MDC Phenotype details muscular weakness with axial/proximal predominance; contractures elbows/knees; no seizures; MRI brain white matter changes, no gyral abnormalities; CPK: 1700; 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, feeding/respiratory problems Protein IHC no LAMA2 Owner name Rosário dos Santos Database submission license No license selected Created by Rosário dos Santos Date created 2011-12-20 00:00:32 +01:00 (CET) Date last edited 2019-08-02 19:23:04 +02:00 (CEST)

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