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Clinical and Genetic Analysis of Limb-Girdle Muscular Dystrophy Type 2F with A Novel SGCD Mutation: A Case Report.

Year: 2026

Type: article

Abstract: gene in a consanguineous Iranian family affected by LGMD2F. The patient, a 10.5-year-old boy, exhibited progressive muscle weakness alongside specific clinical features such as contractures and scoliosis. Genetic analysis revealed that this deletion caused a p.Leu191del alteration in the δ-sarcoglycan protein. The mutation was confirmed via Sanger sequencing and found to co-segregate with the disease phenotype within the family. These findings provide new insights into the genetic basis of LGMD2F, underscoring the critical role of comprehensive genetic analysis for accurate diagnosis and management. This study contributes to the broader understanding of the genetic diversity of LGMDs and highlights the need for ongoing research to enhance diagnostic and therapeutic approaches.

Source: PubMed

DOI: 10.22074/cellj.2025.2044959.1707

Authors: Amin Sakhaei, Javad Mohammadi-Asl

Institutions: Islamic Azad University, Tehran, Islamic Azad University North Tehran Branch, Ahvaz Jundishapur University of Medical Sciences

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7130822106

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