Beyza Aydin1, Sezin Canbek2, Ceren Bibinoğlu Amirov3

1Department of Molecular Biology and Genetics, Karadeniz Technical University, Trabzon, Türkiye
2Department of Medical Genetics, Ümraniye Research and Training Hospital, Istanbul, Türkiye
3Department of Pediatric Neurology, Ümraniye Research and Training Hospital, Istanbul, Türkiye

Keywords: Autosomal recessive, frameshift, likely pathogenic, muscular dystrophy, titin.


The TTN gene encodes the largest human protein (OMIM 188840). It is known pathogenic variants in this gene can lead to cardiomyopathy and muscle diseases. Mutations in this gene can also occur during the congenital period. According to OMIM data, the diseases that can be identified by the mutation type in our study include muscular dystrophy, limb-girdle, autosomal recessive 10, and Salih myopathy. In this study, the TTN NM_001267550.2:c.32676del frameshift variant was identified as homozygous in the patient. This homozygous mutation, which has been retained in the patient, is manifested in the family as carrier status. The patient's family is asymptomatic. In this case report, a 21-month-old male patient applied to the pediatric neurology clinic with complaints of delayed motor-milestones and difficulty in walking. Clinical exome sequencing, next-generation sequencing, and Sanger analyses were used as methods in the analysis. Although the mutation observed in the patient is listed as likely pathogenic in ClinVar, we did not encounter this exact mutation in the literature.

Cite this article as: Aydin B, Canbek S, Bibinoğlu Amirov C. Limb-girdle muscular dystrophy: A rare clinical case report. D J Med Sci 2024;10(1):18-25. doi: 10.5606/fng. btd.2024.143.

Author Contributions

Idea/concept, other: B.A., S.C.; Design, literature review, writing the article, references and fundings: B.A.; Control/supervision, critical review, materials, data collection and/or processing: S.C.; Analysis and/or interpretation: B.A., S.C., C.B.A.

Conflict of Interest

The authors declared no conflicts of interest with respect to the authorship and/ or publication of this article.

Financial Disclosure

The authors received no financial support for the research and/or authorship of this article.