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Abstract
Limb-girdle muscular dystrophies (LGMDs) are clinically and genetically heterogeneous diseases presenting with a wide clinical spectrum. Autosomal dominant LGMDs represent about 10–15% of LGMDs and include disorders due to defects of DNAJB6, transportin-3 (TNPO3), HNRNPDL, Calpain-3 (CAPN3), and Bethlem myopathy. This review article aims to describe the clinical spectrum of LGMD D2 TNPO3-related, a rare disease due to heterozygous mutation in the TNPO3 gene. TNPO3 encodes for transportin-3, which belongs to the importin beta family and transports into the nucleus serine/arginine-rich (SR) proteins, such as splicing factors, and HIV-1 proteins, thus contributing to viral infection. The purpose of this review is to present and compare the clinical features and the genetic and histopathological findings described in LGMD D2, performing a comparative analytical description of all the families and sporadic cases identified. Even if the causative gene and mutations of this disease have been identified, the pathogenic mechanisms are still an open issue; therefore, we will present an overview of the hypotheses that explain the pathology of LGMD D2 TNPO3-related.
Highlights
Limb-girdle muscular dystrophies (LGMDs) are a group of muscular diseases characterized by predominant proximal muscle weakness
The estimated incidence for all forms is 1:100,000 and they are divided into two major subgroups: autosomal dominant forms (LGMD type D, according to the new classification) and autosomal recessive (LGMD type R)
The new classification and definition of LGMDs take into account age at onset, motor function, creatine kinase (CK) levels, muscle histology, and imaging [2]
Summary
Limb-girdle muscular dystrophies (LGMDs) are a group of muscular diseases characterized by predominant proximal muscle weakness. LGMD subtypes are highly variable in terms of age of onset, speed of disease progression, and overall severity; at a histopathological level, their main common feature is progressive muscle degeneration, they do not share a common pathological mechanism [1]. The estimated incidence for all forms is 1:100,000 and they are divided into two major subgroups: autosomal dominant forms (LGMD type D, according to the new classification) and autosomal recessive (LGMD type R). The new classification and definition of LGMDs take into account age at onset, motor function, creatine kinase (CK) levels, muscle histology, and imaging [2]. Recent advances in genome sequencing techniques have led to the pathological identification of 30 different LGMD genetic subtypes [3]. One subtype of dominant LGMD is caused by a mutation in the TNPO3 gene (LGMD D2), which encodes for transportin-3 (TNPO3), a protein belonging to the importin beta-superfamily
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