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31 children with limb-girdle muscular dystrophy at Çukurova: calpainopathy was the most common type

Peer-reviewed publication

A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.

Records of children with limb-girdle muscular dystrophy were reviewed at Çukurova University. Of 31 children in total, the diagnosis was confirmed by genetic testing in 25. The most common type was calpainopathy, at 51.6%. In the sarcoglycan types, the ability to walk was lost earlier. In four children, 3 new, previously unknown gene changes were found.

What does it mean for patients and families?

Knowing the type of the disease makes it easier to give the family genetic counseling and to take part in targeted treatments in the future. This is a small study from a single region.

Source

PubMed (Italian Journal of Pediatrics): Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region.

Scientific paper: Clinical, demographic and genetic features of pediatric limb-girdle muscular dystrophy in the Çukurova region. Italian Journal of Pediatrics, 2026. DOI: 10.1186/s13052-026-02270-1 · PubMed 42036705

The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).

This page is translated from the Turkish original.

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This page was translated from Turkish by the Doktorclub editorial team.