Phenotype #0000079479

Individual ID 00101229
Associated disease MDDGC5;LGMDR9;LGMD2I
Inheritance Isolated (sporadic)
Phenotype details possible congenital muscular dystrophy phenotype; at 1m presented with hypotonia, hyperCKemia (3,000 UI/L, reference values: 55-170 UI/L) and respiratory insufficiency; muscle biopsy showed muscle atrophic fibers along with perimisial and endomisial fibrosis, but without establishing definitive or presumptive diagnosis; 4m-died with diagnosis of right heart failure, respiratory insufficiency, septic shock
Diagnosis/Initial -
Age/Examination 00y01m (1 month)
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset 00y01m
Phenotype/Onset 01m
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 2017-03-22 03:32:41 +01:00 (CET)
Date last edited 2017-10-24 16:51:53 +02:00 (CEST)

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