Global Variome shared LOVD

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Phenotype #0000125062 Individual ID 00102196 Associated disease MDC Phenotype details dystrophy, muscular, congenital; mildly hypotonic, proximal weakness, hyporeflexia; 9y-tires easily, no Gower's maneuver, nomuscle hypertrophy/contractures, never seizures; hypodensity white matter; CPK: 3500 U/L (<200 U/L); no mental retardation; s8m, w18m Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 4y Phenotype/Onset waddling gait, slow awkard run Protein IHC partial LAMA2 staining Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen 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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