Centronuclear Myopathy
What's New
Last Posted: May 20, 2023
- X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene.
Polina Chausova, et al. International journal of molecular sciences 2023 0 (9) - A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.
Cabrera-Serrano Macarena, et al. Neurology 2018 0 (4) e339-e348 - Mutational and clinical spectrum of centronuclear myopathy in 9 cases and a literature review of Chinese patients.
Wang Qi, et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021 0 (4) 2803-2811 - Frequency of the allelic variant of the PTPLA gene responsible for centronuclear myopathy in Labrador Retriever dogs as assessed in Italy.
Gentilini Fabio, et al. Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc 2011 0 (1) 124-6 - Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
Kitamura Yuri, et al. Journal of human genetics 2016 6 - Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.
Kraeva N, et al. Neuromuscular disorders : NMD 2015 7 (7) 567-76 - Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.
Fiszer Dorota, et al. Anesthesiology 2015 5 (5) 1033-46 - Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
Ceyhan-Birsoy Ozge, et al. Neurology 2013 10 (14) 1205-14 - Autosomal dominant centronuclear myopathy
From NCATS Genetic and Rare Diseases Information Center - Autosomal recessive centronuclear myopathy
From NCATS Genetic and Rare Diseases Information Center
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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