Phenotype #0000119327

Individual ID 00146627
Associated disease LGMD-2
Inheritance Isolated (sporadic)
Diagnosis/Initial dystrophy, muscular, limb-girdle, autosomal recessive
Age/Examination -
Diagnosis/Definite LGMD-2I
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details -
Protein IHC DMD/LAMA2 normal, SGCs, sarcospan, UTRN, DYSF, CAV3, DTN, colIV/VI, betaDAG1, alphaDAG1 reduced; WB 300 kDa reduced/80 kDa near absent
Owner name Johan den Dunnen