Global Variome shared LOVD

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

Phenotype #0000125137 Individual ID 00102192 Associated disease MDC Phenotype details generalized weakness with proximal predominance; contractures knees/hips, limited ankle movements; no seizures; MRI brain white matter changes, abnormal bilateral frontal gyration; CPK: 2697; no mental retardation; assisted trunk control Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset hypotonia, poor spontaneous movements 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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