Congenital Muscular Dystrophy
Last Posted: May 01, 2023
- Broad spectrum of phenotype and genotype in Korean ?-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center.
Young Jun Ko, et al. Neuromuscular disorders : NMD 2023 0 (5) 425-431
- LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
Cesar Sergi, et al. Frontiers in genetics 2023 0 1135438
- Clinical and genomic characteristics of LAMA2 related congenital muscular dystrophy in a patients' cohort from Qatar. A population specific founder variant.
Abdel Aleem Alice, et al. Neuromuscular disorders : NMD 2020 0 (6) 457-471
- Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.
Fan Yanbin, et al. Journal of medical genetics 2020 0 (5) 326-333
- Novel LAMA2 variants identified in a patient with white matter abnormalities.
Yamamoto-Shimojima Keiko, et al. Human genome variation 2020 0 16
- Genotype-Phenotype Correlation of the Childhood-Onset Bethlem Myopathy in the Mediterranean Region of Turkey.
Kutluk Muhammet G, et al. Annals of Indian Academy of Neurology 2021 0 (4) 547-551
- FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.
Awano Hiroyuki, et al. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2021 0 215-221
- Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.
Tan Dandan, et al. Orphanet journal of rare diseases 2021 0 (1) 319
- A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy.
Kutluk Gultekin, et al. Annals of Indian Academy of Neurology 2021 0 (5) 694-696
- Comparison of sitting and supine forced vital capacity in collagen VI-related dystrophy and laminin ?2-related dystrophy.
Meilleur Katherine G, et al. Pediatric pulmonology 2017 0 (4) 524-532
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 07, 2023
- Content source: