Charcot-marie-tooth Disease
What's New
Last Posted: Jan 03, 2020
- Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Cortese Andrea et al. Neurology 2020 Jan 94(1) e51-e61 - Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
Mandarakas Melissa R et al. Brain : a journal of neurology 2018 Nov - Neuropathy.
Pisciotta Chiara et al. Handbook of clinical neurology 2018 148653-665 - Precision Medicine for Charcot-Marie-Tooth Disease.
Pleasure David et al. JAMA neurology 2016 73(6) 623-4 - Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: outcomes from a cohort of 50 families.
Hartley Taila et al. Clinical genetics 2017 Jul - Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Drew Alexander P et al. Mol Genet Genomic Med 2015 Mar 3(2) 143-54 - Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
From NCATS Genetic and Rare Diseases Information Center - Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
From NCATS Genetic and Rare Diseases Information Center - Autosomal recessive intermediate Charcot-Marie-Tooth disease
From NCATS Genetic and Rare Diseases Information Center - Charcot-Marie-Tooth disease
From NCATS Genetic and Rare Diseases Information Center
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
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- Microcephaly
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- Phenylketonuria
- Retinitis Pigmentosa
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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:Oct 1, 2020
- Page last updated:Jan 27, 2021
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