Phenotype #0000205090

Individual ID 00267245
Associated disease MDDGC5;LGMDR9;LGMD2I
Inheritance Familial, autosomal recessive
Phenotype details “BMD phenotype”, hyperCKemia, MP-EMG; died at age 15y due to dilated cardiomyopathy, confirmed by post-mortem study; compound heterozygous sister deceased at 30y due to dilated
cardiomyopathy
Diagnosis/Initial Becker muscular dystrophy, dilated cardiomyopathy
Age/Examination 15y (15 years)
Diagnosis/Definite LGMD2I;LGMDR9
Age/Diagnosis -
Age/Onset ?
Phenotype/Onset -
Protein -
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 2019-11-04 03:06:47 +01:00 (CET)
Date last edited 2019-11-05 22:39:27 +01:00 (CET)

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