Myofibrillar myopathies due to a novel mutation in exon 8 of the LDB3 gene

AbstractMyofibrillar myopathies (MFMs) are a group of genetically heterogeneous diseases affecting the skeletal and cardiac muscles. Myofibrillar myopathies are characterized by focal lysis of myogenic fibers and integration of degraded myogenic fiber products into inclusion bodies, which are typically rich in desmin and many other proteins. Herein, we report a case of a 54-year-old woman who experienced bilateral thigh weakness for over three  years. She was diagnosed with MFMs based on muscle biopsy findings and the presence of a novel mutation in exon 8 of the LDB3 gene. Myofibrillar myopathies caused by a mutation in the LDB3 gene are extremely uncommon and often lack distinct clinical characteristics and typically exhibit a slow di sease progression. When considering a diagnosis of MFMs, particularly in complex instances of autosomal dominant myopathies where muscle biopsies do not clearly indicate MFMs, it becomes crucial for clinicians to utilize genetic test as a diagnostic tool.

Source: International Journal of Rheumatic Diseases - February 9, 2024 Category: Rheumatology Authors: Hongjia Du, Yan Chen, Li Zeng, Rui Wu, Tong Wu, Jing Zhu Tags: CASE REPORT Source Type: research