Phenotype #0000155428

Individual ID 00207618
Associated disease DMD
Phenotype details DMD phenotype (hyperCKemia, MP-EMG, dystrophic changes in muscle biopsy with abnormal dystrophin ("patchy") pattern by immunoanalysis).
Diagnosis/Initial Muscular dystrophy
Inheritance Unknown
Diagnosis/Definite Muscular dystrophy of unknown etiology
Age/Examination 11y (11 years)
Age/Onset -
Phenotype/Onset -
Age/Diagnosis -
Protein Abnromal ("patchy") dystrophin immunostaining on muscle biopsy
Owner name Miguel Angel Alcántara-Ortigoza
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Miguel Angel Alcántara-Ortigoza
Date created 2018-11-26 17:12:48 +01:00 (CET)
Date last edited 2018-12-05 18:04:29 +01:00 (CET)

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