Global Variome shared LOVD

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Phenotype #0000125284 Individual ID 00102495 Associated disease MDC Phenotype details severe and generalized weakness, hypotonia, scoliosis, equinus varus feet, under BIPAP; contractures generalized; no seizures; MRI brain white matter changes, no gyral abnormalities; CPK: 5080; no mental retardation; no trunk or 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, areflexia 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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