Charcot-marie-tooth Disease Type 1a
Last Posted: Oct 02, 2019
- Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.
Tao Feifei, et al. Journal of neuromuscular diseases 2019 0 (2) 201-211
- Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.
Tao Feifei, et al. Annals of neurology 2019 3 (3) 316-330
- Association of miR-149 polymorphism with onset age and severity in Charcot-Marie-Tooth disease type 1A.
Nam Soo Hyun, et al. Neuromuscular disorders : NMD 2018 4
- Genetic testing practices for Charcot-Marie-Tooth type 1A disease.
- Charcot-Marie-Tooth disease type 1A
From NCATS Genetic and Rare Diseases Information Center
- A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay.
Lin Chia-Yun, et al. Journal of human genetics 2006 0 (3) 227-35
- Is the 31 CAG repeat allele of the spinocerebellar ataxia 1 (SCA1) gene locus non-specifically associated with trinucleotide expansion diseases?
Savi? D, et al. Psychiatric genetics 2001 12 (4) 201-5
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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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
- Content source: