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[Merosin-deficient congenital muscular dystrophy].
Merosin-deficient-congenital muscular dystrophy (MD-CMD) is characterized by severe progressive muscle weakness that results in contractures, scoliosis, and restrictive pulmonary disease. MD-CMD isExpand
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Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan
Hereditary motor and sensory neuropathy type 1X (HMSN 1X) is the second most frequent form of demyelinating polyneuropathies and is caused by mutations in the gene for connexin 32 protein (Cx32,Expand
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Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families.
Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, PNKP -related disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next generation sequencing (NGS) followed byExpand
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A new case of infantile‐onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family
SPG61 (OMIM: 615685) is an extremely rare form of complicated hereditary spastic paraplegia [1,2]. To date, only one family with SPG61 has been reported [3]. Here, we describe the second SPG61 caseExpand
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Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report
Background Myotonia congenita is a rare neuromuscular disease, which is characterized by a delay in muscle relaxation after evoked or voluntary contraction. Myotonia congenita can be inherited in aExpand
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Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report
Background Hereditary ophthalmic pathology is a genetically heterogeneous group of diseases that occur either as an isolated eye disorder or as a symptom of hereditary syndromes (chromosomal orExpand
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Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome.
A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings
Congenital myasthenic syndrome-22 (CMS22, OMIM 616224) is a very rare recessive hereditary disorder. At the moment, ten CMS22 patients are described, with the disorder caused by nine differentExpand
Spectrum of Mutations in the ATP7B Gene in Russian Patients with Wilson’s Disease
Wilson’s disease (WD) is an autosomal recessive disease caused by an excessive accumulation of copper. The molecular genetic etiology of the disease is due to impairment of the ATP7B gene encodingExpand