Nemaline Myopathy
What's New
Last Posted: Nov 22, 2017
- Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.
Schofield Deborah et al. NPJ genomic medicine 2017 2 - Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen Cleo C et al. Pediatrics 2017 Oct 140(4) - Clinical utility gene card for: Nemaline myopathy.
- Adult-onset nemaline myopathy
From NCATS Genetic and Rare Diseases Information Center - Amish Nemaline Myopathy
From NCATS Genetic and Rare Diseases Information Center - Childhood-onset nemaline myopathy
From NCATS Genetic and Rare Diseases Information Center - Intermediate congenital nemaline myopathy
From NCATS Genetic and Rare Diseases Information Center - Nemaline myopathy
From NCATS Genetic and Rare Diseases Information Center - Severe congenital nemaline myopathy
From NCATS Genetic and Rare Diseases Information Center - Typical congenital nemaline myopathy
From NCATS Genetic and Rare Diseases Information Center
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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
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