X-linked Myotubular Myopathy
What's New
Last Posted: Dec 30, 2023
- Prognostic Value of Genotype-Phenotype Correlations in X-Linked Myotubular Myopathy and the Use of the Face2Gene Application as an Effective Non-Invasive Diagnostic Tool.
Katarína Kušíková, et al. Genes 2023 0 (12) - 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) - Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.
Graham Robert J, et al. Archives of disease in childhood 2019 0 (4) 332-338 - Current Clinical Applications of in vivo Gene Therapy with AAVs.
Mendell Jerry R et al. Molecular therapy : the journal of the American Society of Gene Therapy 2020 Dec - Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance.
Duong Tina et al. Journal of neuromuscular diseases 2020 Sep - New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges.
Ricci Federica et al. Expert review of clinical pharmacology 2019 Jun - A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.
Beggs Alan H et al. Muscle & nerve 2018 57(4) 550-560 - Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
Savarese Marco, et al. Neuromuscular disorders : NMD 2016 2 - X-linked myotubular myopathy
From NCATS Genetic and Rare Diseases Information Center
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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, 2024
- Content source: