A case of "centronuclear myopathy" with late clinical onset. Clinical electrophysiological, histochemical study.
Acta Neurol (Napoli)
Published: December 1983
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[Clinical characteristics and genetic analysis of two children with X-linked Centronuclear myopathy due to variants of MTM1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
July 2024
Department of Neonatology, Wuhan Children's Hospital (Wuhan Maternal and Child Health Care Hospital), Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430070, China.
Objective: To explore the clinical and genetic characteristics of two newborns with Central nuclear myopathy (CNM).
Methods: Two newborns with CNM diagnosed clinically at Wuhan Children's Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology in April 2019 and November 2021 were selected as the study subjects, and their clinical data was collected. Both newborns and their parents were subjected chromosomal karyotyping analysis and whole exome sequencing (WES).
Successful treatment of frequent premature ventricular contractions and non-sustained ventricular tachycardia with verapamil and flecainide in -related myopathy: a case report.
Eur Heart J Case Rep
October 2023
Department of Pediatrics, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo 060-8638, Japan.
Background: Ryanodine receptor 1 ()-related myopathies are a group of congenital muscle diseases caused by mutations. These mutations may cause centronuclear myopathy, a congenital neuromuscular disorder characterized by clinical muscle weakness and pathological presence of centrally placed nuclei on muscle biopsy. Mutations in cause ventricular arrhythmias that can be treated with flecainide; however, reports of ventricular arrhythmias in -related myopathies are rare.
View Article and Find Full Text PDFA Possible Case of Centronuclear Myopathy: A Case Report.
Medicina (Kaunas)
June 2023
Department of Experimental Medicine, Division of Molecular Biology, Biotechnology and Histology, University of Campania, 80138 Naples, Italy.
Congenital myopathies (CMs) are a group of diseases that primarily affect the muscle fiber, especially the contractile apparatus and the different components that condition its normal functioning. They present as muscle weakness and hypotonia at birth or during the first year of life. Centronuclear CM is characterized by a high incidence of nuclei located centrally and internally in muscle fibers.
View Article and Find Full Text PDFX-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the Gene.
Int J Mol Sci
May 2023
Research Centre for Medical Genetics, Moskvorechie Str. 1, 115522 Moscow, Russia.
X-linked centronuclear myopathy is caused by pathogenic variants in the gene, which encodes myotubularin, a phosphatidylinositol 3-phosphate (PI3P) phosphatase. This form of congenital myopathy predominantly affects males. This study presents a case of X-linked myotubular myopathy in a female carrier of a pathogenic c.
View Article and Find Full Text PDFX-linked myotubular myopathy: a clinical report and a review of the mild phenotype.
Rev Neurol
April 2023
Centro Hospitalar Universitário de São João, Oporto, Portugal.
Introduction: X-linked myotubular myopathy is a rare centronuclear myopathy that affects approximately 1 in 50,000 male newborns caused by pathogenic variants in the myotubularin 1 gene (MTM1). The clinical severity varies, however the need for ventilatory support occurs almost invariably.
Case Report: We report the case of a 4-year-old boy presenting mild muscle hypotonia at 12 months-old, expressive language disorder, global developmental delay, and a sensory processing disorder.
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