Cargando…

Genetic and Clinical Spectrum of GNE Myopathy in Russia

GNE myopathy (GNEM) is a rare hereditary disease, but at the same time, it is the most common distal myopathy in several countries due to a founder effect of some pathogenic variants in the GNE gene. We collected the largest cohort of patients with GNEM from Russia and analyzed their mutational spec...

Descripción completa

Detalles Bibliográficos
Autores principales:	Murtazina, Aysylu, Nikitin, Sergey, Rudenskaya, Galina, Sharkova, Inna, Borovikov, Artem, Sparber, Peter, Shchagina, Olga, Chukhrova, Alena, Ryzhkova, Oksana, Shatokhina, Olga, Orlova, Anna, Udalova, Vasilisa, Kanivets, Ilya, Korostelev, Sergey, Polyakov, Alexander, Dadali, Elena, Kutsev, Sergey
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690815/ https://www.ncbi.nlm.nih.gov/pubmed/36360228 http://dx.doi.org/10.3390/genes13111991

Ejemplares similares

Specificities of the DMD Gene Mutation Spectrum in Russian Patients
por: Zinina, Elena, et al.
Publicado: (2022)

The First Russian Patient with Native American Myopathy
por: Murtazina, Aysylu, et al.
Publicado: (2022)

Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene
por: Sharova, Margarita, et al.
Publicado: (2022)

TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study
por: Shatokhina, Olga, et al.
Publicado: (2023)

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene
por: Ionova, Sofya A., et al.
Publicado: (2022)

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4
por: Markova, Tatiana, et al.
Publicado: (2022)

Evaluation of Pathogenicity and Causativity of Variants in the MPZ and SH3TC2 Genes in a Family Case of Hereditary Peripheral Neuropathy
por: Shchagina, Olga, et al.
Publicado: (2023)

A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53
por: Shatokhina, Olga, et al.
Publicado: (2021)

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases
por: Shchagina, Olga, et al.
Publicado: (2022)

X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene
por: Chausova, Polina, et al.
Publicado: (2023)

Pilot Program of Newborn Screening for 5q Spinal Muscular Atrophy in the Russian Federation
por: Mikhalchuk, Kristina, et al.
Publicado: (2023)

BH(4)-deficient hyperphenylalaninemia in Russia
por: Gundorova, Polina, et al.
Publicado: (2021)

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
por: Sparber, Peter, et al.
Publicado: (2020)

Identification of a Novel de Novo Variant in the SYT2 Gene Causing a Rare Type of Distal Hereditary Motor Neuropathy
por: Mironovich, Olga, et al.
Publicado: (2020)

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy
por: Chausova, P. A., et al.
Publicado: (2021)

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
por: Levchenko, Olga, et al.
Publicado: (2022)

Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene
por: Markova, Tatiana, et al.
Publicado: (2021)

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia
por: Gundorova, Polina, et al.
Publicado: (2019)

Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant
por: Merkuryeva, Elena, et al.
Publicado: (2023)

A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation
por: Stepanova, Anna, et al.
Publicado: (2023)

Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia
por: Voskoboeva, Elena, et al.
Publicado: (2022)

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies
por: Sharova, Margarita, et al.
Publicado: (2023)

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I
por: Markova, Tatyana, et al.
Publicado: (2022)

Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome
por: Zabnenkova, Viktoriia, et al.
Publicado: (2022)

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
por: Rudenskaya, G. E., et al.
Publicado: (2020)

Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report
por: Vasilyeva, Tatyana A., et al.
Publicado: (2023)

Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care
por: Sherman, Victoria, et al.
Publicado: (2020)

GNE genotype explains 20% of phenotypic variability in GNE myopathy
por: Pogoryelova, Oksana, et al.
Publicado: (2019)

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
por: Zinchenko, Rena A., et al.
Publicado: (2021)

Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence
por: Zinchenko, Rena A., et al.
Publicado: (2022)

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation
por: Semenova, Natalia, et al.
Publicado: (2023)

Clinical Manifestations of Various Molecular Cytogenetic Variants of Eight Cases of “8p Inverted Duplication/Deletion Syndrome”
por: Yurchenko, Darya A., et al.
Publicado: (2022)

The structure of winter phytoplankton in Lake Nero, Russia, a hypertrophic lake dominated by Planktothrix-like Cyanobacteria
por: Babanazarova, Olga, et al.
Publicado: (2013)

Identification of a GNE homozygous mutation in a Han‐Chinese family with GNE myopathy
por: Wu, Yuan, et al.
Publicado: (2018)

Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy
por: Garland, Jennifer, et al.
Publicado: (2017)

Loneliness among Middle-Aged and Older Middle-Aged Adults in Russia (Saint Petersburg) before and during COVID-19 Pandemic
por: Strizhitskaya, Olga, et al.
Publicado: (2021)

Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss
por: Markova, Tatiana, et al.
Publicado: (2022)

Informal professionalization of healthy participants in phase I clinical trials in Russia
por: Zvonareva, Olga, et al.
Publicado: (2019)

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme
por: Bottega, Roberta, et al.
Publicado: (2021)

Internet of Things, smart spaces, and next generation networks and systems: 18th international conference, NEW2AN 2018, and 11th conference, RUSMART 2018, St. Petersburg, Russia, August 27-29, 2018, proceedings
por: Galinina, Olga, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_ftn41tfghh4crdgrtij7f42br0