Global Variome shared LOVD

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Phenotype #0000125283 Individual ID 00102494 Associated disease MDC Phenotype details muscle biopsy fiber diameter variability, sporadic atrophic/hypertrophic fibers, basophilic fibers (swollen nuclei), endomysial fibrosis close to atrophic fibers, increased type IIC fibers, normal oxidative activity; CPK: 2753-4405 lU (n<210 lU); s2y Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset 0d Phenotype/Onset generalized hypotonia, pes adductus equinovarus, wrist contractures Protein IHC no LAMA2, normal DMD/SGCA/DAG1 Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen 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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