Global Variome shared LOVD

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Phenotype #0000125052 Individual ID 00102178 Associated disease MDC Phenotype details dystrophy, muscular, congenital; marked generalized weakness limb-girdle muscles, contractures elbows/wrists/knees/ankles, bilateral talipes equinovarus, hypertrophic upper/lower extremities were hypertrophic; MRI low signal intensity T1-weighted images, high signal intensity T2-weighted images hyperintensity periventricular images that corresponded to areas of demyelinization; CPK: 2897 U/L Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite MDC-1A Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 1m Phenotype/Onset hypotonic, poor intake, irritability, reduced spontaneous movements, poor suction Protein IHC no LAMA2, normal DMD, SGCA/SGCB/SGCG/SGCD 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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