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An unusual cause of hypertrophic cardiomyopathy in an infant: A case report and brief literature review.
Tunis Med
January 2025
University of Sfax, Military University Hospital of Sfax, Cardiology Department, Sfax, Tunisia.
Introduction: Nemaline myopathy (NM), also known as Nemalinosis, is a rare congenital muscle disease with an incidence of 1 in 50000. It is characterized by nemaline rods in muscle fibers, leading to muscle weakness. We reported a case of NM revealed by cardiac involvement, and we highlighted the challenges in diagnosing this condition as well as its poor prognosis.
View Article and Find Full Text PDFGeneration of an isogenic series of genome-edited hiPSC lines with the BAG3-mutation for modeling myofibrillar myopathy 6.
Stem Cell Res
February 2025
Institute of Physiology I, Medical Faculty, University of Bonn, Germany. Electronic address:
BAG3 contributes to the maintenance of proteostasis through chaperone-assisted selective autophagy. This function is impaired by a single amino acid exchange (P209L) in the protein, which causes myofibrillar myopathy-6 (MFM6). This disease manifests as severe skeletal muscle weakness, neuropathy and restrictive cardiomyopathy.
View Article and Find Full Text PDFRelevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.
Acta Neuropathol Commun
December 2024
Institute of Myology, Neuromuscular Morphology Unit, Sorbonne Université, INSERM, GHU Pitié-Salpêtrière, Paris, France.
Neuromuscular disorders (NMD) with neonatal or early infantile onset are usually severe and differ in symptoms, complications, and treatment options. The establishment of a diagnosis relies on the combination of clinical examination, morphological analyses of muscle biopsies, and genetic investigations. Here, we re-evaluated and classified a unique collection of 535 muscle biopsies from NMD infants aged 0-6 months examined over a period of 52 years.
View Article and Find Full Text PDFSporadic Late-Onset Nemaline Rod Myopathy: An Interesting Case.
Neurol India
November 2024
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Sporadic late-onset nemaline rod myopathy is a rare, acquired, sub-acute, adult-onset myopathy characterized by proximal muscle weakness and nemaline rods in the myofibers. In contrast to its congenital form, the prevalence in adult population is comparatively rare. Herein, we report a case of 60-year-old male who presented with insidious onset proximal muscle weakness with myopathic pattern on electromyography.
View Article and Find Full Text PDFGeneration of two isogenic control lines by correcting the BAG3 P209L mutation of human induced pluripotent stem cell (hiPSC) lines from patients with myofibrillar myopathy-6.
Stem Cell Res
February 2025
Institute of Physiology I, Medical Faculty, University of Bonn, Germany. Electronic address:
BAG3 plays a key role in proteostasis as a central component of the chaperone-assisted selective autophagy (CASA) complex. A point mutation (p.P209L; c.
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