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Enhancing Mobility: Surgical Deformity Correction and Rehabilitation in Emery-Dreifuss Muscular Dystrophy Type 2.
Cureus
November 2024
Physical Medicine and Rehabilitation, St. John's National Academy of Health Sciences, Bengaluru, IND.
Emery-Dreifuss Muscular Dystrophy (EDMD) is a rare genetic disorder characterized by muscle weakness, joint contractures, and cardiac dysfunction. Within this spectrum, EDMD Type 2, attributed to a heterozygous missense variant in exon 9 of the LMNA gene, presents a distinctive clinical profile. This case report details the presentation and management of a teenage girl displaying neck, trunk, upper and lower limb weakness, Achilles tendon contracture, and lordosis.
View Article and Find Full Text PDFIntegrated Quantitative Proteomics and Phosphoproteomics Analysis Reveals the Dynamic Process of Buffalo (Bubalus bubalis) Spermatogenesis.
Reprod Domest Anim
December 2024
Department of Cell and Genetics, College of Basic Medicine, Guangxi University of Chinese Medicine, Nanning, Guangxi, China.
Spermatogenesis is a highly complex and tightly regulated cellular differentiation process closely related to the productive performance of male livestock. We do not yet have a clear understanding of the spermatogenesis mechanism of buffalo. In this study, spermatogonia, spermatocytes and spermatids were analysed by flow cytometry.
View Article and Find Full Text PDFHutchinson-Gilford progeria syndrome: unraveling the genetic basis, symptoms, and advancements in therapeutic approaches.
Ther Adv Rare Dis
December 2024
Department of Pharmacy Practice Amrita School of Pharmacy, Amrita Vishwa Vidyapeetham, Kochi, KL, India.
Hutchinson-Gilford Progeria syndrome (HGPS) serves as a prominent model for Progeroid syndromes, a group of rare genetic disorders characterized by accelerated aging. This review explores the genetic basis, clinical presentation, and complications of HGPS. HGPS is caused by mutations in the LMNA gene, resulting in the production of a defective structural protein, prelamin A.
View Article and Find Full Text PDFA woman with multifocal lipodystrophy in unilateral trunk and extremities.
Neuro Endocrinol Lett
November 2024
First Affiliated Hospital of Kunming Medical University, Kunming, China.
Adipose dystrophy, also known as lipodystrophy, is a heterogeneous disease characterized by the complete or partial loss of adipose tissue. In some cases, patients with lipodystrophy may exhibit fat accumulation in other areas of the body, as well as metabolic abnormalities such as insulin resistance, hyperlipidemia, liver disease, and increased metabolic rate. The condition may also be associated with gene mutations, including those in acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2), caveolin-1 (CAV1), polymerase I and transcript release factor (PTRF), lamins A (LMNA), zinc metalloproteinase (ZMPSTE24), peroxisome proliferator-activated receptor gamma (PPARG), v-AKT murine thymoma oncogene homolog 2 (AKT2), perilipin 1 (PLIN1), and proteasome subunit, β-type, 8 (PSMB8).
View Article and Find Full Text PDFMuch More Than a Stroke: Emery-Dreifuss Muscular Dystrophy Type 2 Revealed by Ischemic Stroke.
Cureus
November 2024
Stroke Unit, Centro Hospitalar Tondela-Viseu, Viseu, PRT.
Emery-Dreifuss muscular dystrophy type 2 (EDMD2) is a rare autosomal dominant neuromuscular disorder caused by LMNA gene mutations and characterized by progressive skeletal muscle weakness and significant cardiac involvement. We report the case of a 45-year-old woman who presented with sudden-onset, left-sided hemiparesis and dysarthria. Initial imaging was unremarkable, and symptoms transiently improved, suggesting a transient ischemic attack.
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