Mutations in filamin B (FLNB), a gene encoding a cytoplasmic actin-binding protein, have been found in human skeletal disorders, including boomerang dysplasia, spondylocarpotarsal syndrome, Larsen syndrome, and atelosteogenesis phenotypes I and III. To examine the role of FLNB in vivo, we generated mice with a targeted disruption of Flnb. Fewer than 3% of homozygous embryos reached term, indica...

MicroRNAs (miRNAs) have recently emerged as fundamental post-transcriptional regulators inhibit gene expression linked to various biological processes. MiR-206 is one of the most studied and best characterized miRNA to date, which specifically expressed in skeletal muscle. In this review, we summarized the results of studies of miR-206 with emphasis on its function in skeletal muscle developmen...

Laminopathies are a heterogeneous group of disorders related to alterations on genes coding for proteins of the nuclear envelope. Among these clinical entities, there are several diseases affecting mainly the cardiac and skeletal muscles. These disorders include forms with a selective cardiac compromise and muscular dystrophies (autosomal and X-linked forms of Emery-Dreifuss muscular dystrophy,...

Laminopathies are a group of disorders caused by mutations in the LMNA gene encoding A-type lamins, components of the nuclear lamina. Three of these disorders affect specifically the skeletal and/or cardiac muscles, and their pathogenic mechanisms are still unknown. We chose the LMNA H222P missense mutation identified in a family with autosomal dominant Emery-Dreifuss muscular dystrophy, one of...

PURPOSE Clinical data indicate that extraocular muscles have different susceptibilities for some orbital immune disorders depending on their anatomic location. The resident immunocompetent cells may be important mediators in the local pathogenesis of such disorders so the distribution of these cells was studied in extraocular muscles obtained from normal human donors. For comparison skeletal mu...

Our understanding of the pathology of the nondystrophic myotonias and the periodic paralyses has profited immensely from the use of modern electrophysiology (three microelectrode voltage clamp, patch-clamp techniques) and molecular biology (candidate gene approaches in contrast to reverse genetics in other neuromuscular diseases). In the past few years it has become clear that--apart from the n...

Musculosceletal Disorders (MSDs) merupakan keluhan bagian otot skeletal yang dirasakan oleh seseorang mulai dari ringan sampai dengan berat, umumnya terjadi karena peregangan terlalu berat dan durasi pembebanan lama, sehingga dapat menyebabkan kerusakan pada sendi, ligament tendon. Tujuan penelitian ini untuk mengetahui faktor berhubungan musculoskeletal disorders pegawai menggunakan komputer d...

Changes in protein abundance in skeletal muscle are central to a large number of metabolic and other disorders, including, and perhaps most commonly, insulin resistance. Proteomics analysis of human muscle is an important approach for gaining insight into the biochemical basis for normal and pathophysiological conditions. However, to date, the number of proteins identified by this approach has ...

PT. Bumi Sama Ganda merupakan perusahaan manufaktur dibidang pengolahan kelapa sawit menajdi CPO (Crude Palm Oil). Masalah yang dihadapi yaitu operator mengalami keluhan pada otot skeletal disebut dengan Musculosceletal Disorders (MSDs). Tujuan penelitian adalah mengidentifikasi produksi. Metode Standard Nordic Questionnaire (SNQ) digunakan untuk Hasil dan Pembahasan, Persentasi produksi pingga...

Musculoskeletal symptoms may be due to noninflammatory causes, including genetic disorders. We aimed examine the final diagnosis in patients who presented with musculoskeletal complaints rheumatology department. Patients Department of Pediatric Rheumatology and were referred pediatric department between January 2015 May 2019 evaluated retrospectively. A total 60 patients, 19 boys (31.66%), a me...