Global Variome shared LOVD

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Phenotype #0000161574 Individual ID 00213094 Associated disease LGMDR5;LGMD2C Phenotype details Suspected Duchenne muscular dystrophy, but with normal results on multiplex PCR and MLPA for DMD gene Diagnosis/Initial Suspected Duchenne muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite Limb-girdle muscular dystrophy type 2C (LGMD2C) Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset ? Phenotype/Onset Muscular dystrophy Protein No muscle biopsy performed Owner name Miguel Angel Alcántara-Ortigoza Database submission license Creative Commons Attribution 4.0 International Created by Miguel Angel Alcántara-Ortigoza Date created 2019-01-09 17:44:29 +01:00 (CET) Date last edited 2019-01-10 09:15:41 +01:00 (CET)

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