3. Summary and future directions

For most forms of muscular dystrophy, the diagnosis is still challenging, and a multidisciplinary approach is always required. Only a good knowledge of protein and gene involved in pathology can provide the correct diagnosis and is essential for therapeutic interventions. New genetic therapies under development like exon skipping which tried to restore the reading frame with antisense oligonucleotides and to transform severe DMD phenotype in a less severe phenotype require a good characterization of the mutation.

When clinical symptoms are combined with protein analysis by immunofluorescence and Western blot, and with high-throughput DNA molecular technique such us MLPA, hrMCA, and sequencing, the diagnostic capabilities greatly improve and can provide an accurate diagnosis.

A defined genetic diagnosis is important for an appropriate treatment and genetic counseling as well as inclusion of patients in further clinical trials.

## Acknowledgements

This study is funded by the Ministry of Research and Innovation in Romania, under Program 1, The Improvement of the National System of Research and Development, Subprogram 1.2—Institutional Excellence—Projects of Excellence Funding in RDI, Contract No. 7PFE/16.10.2018, and National Program 31N/2016/ PN16.22.02.05.

### Conflict of interest

The authors declare that they have no competing interests.
