Global Variome shared LOVD

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

Phenotype #0000125290 Individual ID 00102502 Associated disease MDC Phenotype details muscular weakness with axial/proximal predominance; contractures knees/ankles; no seizures; MRI brain white matter changes , no gyral abnormalities; CPK: 5530; no mental retardation; no head control Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset <0d Phenotype/Onset generalized hypotonia with proximal predominance, feeding 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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