The First Russian Patient with Native American Myopathy.

Cleft Palate Female Humans Malignant Hyperthermia / genetics Muscular Diseases / genetics Myotonia Congenita / genetics
NAM Native American myopathy STAC3 congenital myopathy

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
13 02 2022
Historique:
received: 25 01 2022
revised: 09 02 2022
accepted: 11 02 2022
entrez: 25 2 2022
pubmed: 26 2 2022
medline: 20 4 2022
Statut: epublish

Résumé

Congenital myopathy associated with pathogenic variants in the

Identifiants

DOI: 10.3390/genes13020341 PMID: 35205385 PMC: PMC8872138
pubmed: 35205385
pii: genes13020341
doi: 10.3390/genes13020341
pmc: PMC8872138
pii:
doi:

Types de publication

Case Reports Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Références

Proc Natl Acad Sci U S A. 2013 Jul 16;110(29):11881-6
pubmed: 23818578
Am J Med Genet A. 2008 Jul 15;146A(14):1832-41
pubmed: 18553514
Hum Mutat. 2018 Dec;39(12):1980-1994
pubmed: 30168660
Anesth Analg. 1987 Oct;66(10):1043-5
pubmed: 3631569
J Biol Chem. 2021 Jul;297(1):100874
pubmed: 34129875
Nat Commun. 2013;4:1952
pubmed: 23736855
Structure. 2020 Aug 4;28(8):922-932.e5
pubmed: 32492370
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Neuropediatrics. 2017 Dec;48(6):451-455
pubmed: 28411587
Am J Med Genet A. 2017 Oct;173(10):2763-2771
pubmed: 28777491

Auteurs

Aysylu Murtazina (A)

Research Centre for Medical Genetics, 115478 Moscow, Russia.
ORCID: 0000-0001-7023-7378

Nina Demina (N)

Research Centre for Medical Genetics, 115478 Moscow, Russia.

Polina Chausova (P)

Research Centre for Medical Genetics, 115478 Moscow, Russia.

Olga Shchagina (O)

Research Centre for Medical Genetics, 115478 Moscow, Russia.
ORCID: 0000-0003-4905-1303

Artem Borovikov (A)

Research Centre for Medical Genetics, 115478 Moscow, Russia.
ORCID: 0000-0001-5871-8005

Elena Dadali (E)

Research Centre for Medical Genetics, 115478 Moscow, Russia.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations du système stomatognathique › Malformations de la bouche › Fente palatine › The First Russian Patient with Native American...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The First Russian Patient with Native American...
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Troubles de la température corporelle › Hyperthermie maligne › The First Russian Patient with Native American...
questionsmedicales.fr › Maladies du système nerveux › Maladies neuromusculaires › Maladies musculaires › The First Russian Patient with Native American...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Myotonie congénitale › The First Russian Patient with Native American...