Phenotype #0000051340

Individual ID 00065233
Associated disease LGMD-2
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination -
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details atypical phenotype, no classical features of desminopathy, neither cardiomyopathy nor typical histological changes; IF staining/WB analysis show preserved expression cytoskeletal network formation variant desmin in skeletal muscle fibres
Protein -
Owner name Johan den Dunnen