Acronyms and abbreviations


Clinical and Molecular Diagnosis in Muscular Dystrophies DOI: http://dx.doi.org/10.5772/intechopen.85339

protein is due to a functional enzyme defect that impairs the autolytic or proteolytic activity of protein without elimination of protein from the muscle [102, 103].

in amount as secondary effect in other forms of muscular dystrophies such as

dysferlinopathies [40] and titinopathies [81, 92].

primary defect and the secondary reductions.

3. Summary and future directions

Muscular Dystrophies

characterization of the mutation.

Acknowledgements

PN16.22.02.05.

Conflict of interest

Acronyms and abbreviations

CK creatine kinase

24

BMD Becker muscular dystrophy

CMD congenital muscular dystrophy

DMD Duchenne muscular dystrophy

DAPC dystrophin-associated protein complex

EDMD emery-Dreyfus muscular dystrophy FCMD fukuyama congenital muscular dystrophy FSHD facioscapulohumeral muscular dystrophy

DM myotonic dystrophy (DM1 Type 1, DM2 Type 2)

and can provide an accurate diagnosis.

The reduction is more difficult to interpret because calpain-3 appears to reduce

Even if muscle calpain-3 results on blot should always be confirmed by mutation analysis, Western blot remains one of the most valuable diagnostic tools in LGMDs allowing for the simultaneous analysis of multiple proteins, identifying both the

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

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

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

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/

The authors declare that they have no competing interests.

