Neurol. praxi. 2022;23(1):50-53 | DOI: 10.36290/neu.2021.071
Molecular genetic diagnostics of childhood muscular dystrophies
- Centrum molekulární biologie a genetiky, Fakultní nemocnice Brno
Muscular dystrophies are rare diseases characterized by great clinical and genetic heterogeneity. The best known and most common muscular dystrophy of childhood is Duchenne muscular dystrophy, followed in a not entirely clear order by myotonic dystrophy 1, facioscapulohumeral muscular dystrophy 1 and muscular dystrophies from the group of congenital muscular dystrophies and limb-girdle muscular dystrophies. The identification of pathogenic variants in associated genes leads to a significant shift in understanding of the etiopathogenesis of disease, enables the prediction of the disease course of and possibly its targeted treatment.
Keywords: muscular dystrophy, genetic diagnostics, sequencing.
Received: September 23, 2021; Revised: September 23, 2021; Accepted: September 27, 2021; Prepublished online: September 27, 2021; Published: March 14, 2022 Show citation
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