Table 1.
Contact | Clinical data |
---|---|
-Name |
-Data |
-ID number |
-Muscle biopsy |
-Hospital |
•Examed/not examed |
-Date of birth |
•Dystrophin immunostain |
-Address |
-Walking capability |
-Phone |
•Ambulant /wheelchair |
-E-mail |
-Use steroid therapy |
-Signed up for other registries |
-Cardiac function |
-Attending any clinical trials |
•LVEF(%) |
-Registering other database |
•Medication |
Diagnosis |
-Respiratory function |
-DMD/BMD/IMD |
•FVC |
-Proof of the diagnosis |
•Mechanical support |
•Genetic confirmed |
-Scoliosis surgery |
•Muscle biopsy |
-CK level |
•Suspected from family history |
-Weight |
•Others |
Molecular genetic data (certificated report should be attached) |
|
-Method |
|
•MLPA/Multiplex PCR/southern blot/RT-PCR/ Direct sequencing of exons |
|
-Type of mutation |
|
•Deletion/duplication/others |
•Details of the mutation |
DMD, Duchenne muscular dystrophy; BMD, Becker muscular dystrophy; IMD, Intermediate muscular dystrophy; MLPA, Multiplex ligation-dependent probe amplification; LVEF, Left ventricular ejection fraction; FVC, Forced vital capacity; CK, Creatine kinase.