Global Variome shared LOVD

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Phenotype #0000125092 Individual ID 00102504 Associated disease MDC Phenotype details dystrophy, muscular, congenital; delayed motor milestones, generalized weakness limb girdle muscles, bilateral talipes equinovarus, no respiratory/cardiac problems, ENG myopathic changes, fibrillation/positive sharp waves, delayed sensory nerve conduction velocity, normal motor nerve conduction velocitie, CT-scan white matter hypodensity; CPK: 1475 U/L (n<150); not sit Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset floppy, hypotonia, reduced spontaneous movements, poor sucking 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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