The authors describe the findings in a Czech cohort of LGMD (231 probands), reporting the frequency of each specific form.
Some main remarks:
1. The current focus is on the specific forms of LGMD diagnosed. Although it is the first study in the Czech population, the novelty is limited by similar studies performed in other population already years ago. To provide further insights, it would be interesting to highlight possible alternative diagnoses, i.e., clinical suspect of LGMD and molecular diagnosis of a different disease due to causative mutations in genes not included in the current Straub classification (e.g., late onset pompe disease or other metabolic diseases, or even distal myopathies).
2. The authors may specificy the ACMG classification of the identified variants, clarifying also the criteria for each specific variant (in Tables A1 and A2). In particular, there are several novel missense variants reported and it would be important to clarify how these variants were classified.
3. The authors can further comment on the overall diagnostic rate compared to similar studies.
4. The authors can further clarify the CNV tools used and the findings obtained.