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 InternationalCreative Commons License
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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