Publications by authors named "Aysylu Murtazina"

We present a family with two male siblings diagnosed with a newly described digenic myopathy, involving likely pathogenic loss-of-function variants in the SRPK3 and TTN genes: hemizygous p.(Pro68ArgfsTer55) and heterozygous p.(Trp14174Ter), respectively.

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Limb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of genetic disorders characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the pelvic and shoulder girdles. LGMD R27, linked to biallelic pathogenic variants in the gene, was recently described, and to date, only 27 cases has been published in three reports. Here, we present two siblings exhibiting a severe clinical phenotype of LGMD R27, associated with a novel homozygous frameshift variant [c.

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We report a case of -associated autosomal recessive spinocerebellar ataxia (SCAR8) presenting with a complex multisystemic phenotype, including highly elevated creatine kinase levels and lower-leg muscle atrophy. In addition to identifying two novel pathogenic variants in the gene, whole-exome sequencing revealed three variants of uncertain significance in the gene. Electromyography and muscle magnetic resonance imaging indicated a neurogenic pattern of muscle involvement.

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Myotonic dystrophy type 1 (DM1) is a multisystem disorder with progressive myopathy and myotonia. The clinical study was conducted in the Republic of North Ossetia-Alania (RNOA), and in it 39 individuals from 17 unrelated families were identified with DM1. Clinical presentations varied, including muscle weakness, fatigue, intellectual disability, hypersomnia, ophthalmological abnormalities, and alopecia.

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Recent research has sparked a discussion on the spectrum of diseases linked to the gene associated with amyotrophic lateral sclerosis and distal myopathy with vocal cord and pharyngeal weakness (VCPDM). To date, fewer than 50 cases of VCPDM have been reported in the literature. We aim to build upon the work of previous researchers by gathering additional information about VCPDM.

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Multiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the or genes, facilitating relatively precise clinical diagnosis through established diagnostic criteria. Despite this, a notable percentage of MO cases (10%-20%) remains unresolved after sequencing coding regions and copy number analysis of both genes.

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Article Synopsis
  • Charcot-Marie-Tooth disease type 4C (CMT4C) is a common type of recessive neuropathy caused by genetic variants in a specific gene.
  • A study of 700 unrelated Russian patients found 10 cases of CMT4C, indicating a prevalence of 2.5% among those with demyelinating neuropathy.
  • Researchers identified 4 new and 9 previously known genetic variants related to CMT4C, with one variant (p.Arg954*) appearing in about 30% of the patients, showing no major variant accumulation overall.
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Article Synopsis
  • Sarcoglycanopathies are a group of limb-girdle muscular dystrophies (LGMD R3-R6) caused by mutations in the SGCA, SGCB, SGCG, and SGCD genes, with low global prevalence.
  • A study analyzed clinical and genetic data from 49 Russian patients, revealing that 71.4% had SGCA gene variants, while SGCB and SGCG had variants in 12.2% each, and SGCD in 4.1%.
  • The most common mutations were c.229C>T and c.271G>A in SGCA, and the overall incidence of sarcoglycanopathies in Russia was estimated at 1 in 4,115
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Congenital myasthenic syndrome with episodic apnea is associated with pathogenic variants in the gene. While respiratory disorders and oculomotor findings are commonly reported in affected individuals, a subset of patients only present with muscle weakness and/or ptosis but not apneic crises. In this case series, we describe five individuals with exercise intolerance caused by single nucleotide variants in the gene.

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The gene encodes a homeobox transcription factor pivotal in the development of rhombomere 4. Biallelic pathogenic variants in this gene are associated with congenital facial paresis type 3 (HCFP3). Only seven single nucleotide variants have been reported in the literature to date.

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X-linked centronuclear myopathy is caused by pathogenic variants in the gene, which encodes myotubularin, a phosphatidylinositol 3-phosphate (PI3P) phosphatase. This form of congenital myopathy predominantly affects males. This study presents a case of X-linked myotubular myopathy in a female carrier of a pathogenic c.

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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 gene. We collected the largest cohort of patients with GNEM from Russia and analyzed their mutational spectrum and clinical data. In our cohort, 10 novel variants were found, including 2 frameshift variants and 2 large deletions.

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We present a patient with congenital myopathy and an inborn epiphysiolysis of the ulna. Whole-exome sequencing analysis revealed two novel mutations in Activation Signal Cointegrator Complex 1 (ASCC1) gene in a compound heterozygous state-a splicing variant c.395-2A>G and a deletion of the first two coding exons.

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Congenital myopathy associated with pathogenic variants in the gene has long been considered native American myopathy (NAM). In 2017, the first case of a non-Amerindian patient with this myopathy was described. Here, we report the first Russian patient with NAM.

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