Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press69910.17650/2222-8721-2026-16-1-72-88CLINICAL CASEКЛИНИЧЕСКИЙ РАЗБОРResearch ArticleCongenital ACTA1-associated homozygous nemaline myopathy: case reportВрожденная АСТА1-ассоциированная гомозиготная немалиновая миопатия: клинический случайhttps://orcid.org/0000-0002-3146-0822TranMinh DucЧанМинь Дык
Russian Federation
epistaxis@mail.ruhttps://orcid.org/0000-0002-3804-6245BardakovS. N.БардаковС. Н.
Russian Federation
epistaxis@mail.ruhttps://orcid.org/0000-0003-4109-0105EmelinA. M.ЕмелинА. М.
Russian Federation
epistaxis@mail.ruhttps://orcid.org/0000-0002-5608-7809TitovaA. A.ТитоваА. А.
Russian Federation
epistaxis@mail.ruhttps://orcid.org/0000-0002-2903-9107DmitrochenkoI. V.ДмитроченкоИ. В.
Russian Federation
epistaxis@mail.ruhttps://orcid.org/0000-0002-5459-986XTsargushV. A.ЦаргушВ. А.
Russian Federation
epistaxis@mail.ruhttps://orcid.org/0009-0006-8863-1158BinnatovaD. O.БиннатоваД. О.
Russian Federation
epistaxis@mail.ruhttps://orcid.org/0000-0001-8127-4078YakovlevI. A.ЯковлевИ. А.
Russian Federation
epistaxis@mail.ruhttps://orcid.org/0000-0001-5848-5117IsaevA. A.ИсаевА. А.
Russian Federation
epistaxis@mail.ruhttps://orcid.org/0000-0001-8389-3841DeevR. V.ДеевР. В.
Russian Federation
epistaxis@mail.ruN.I. Pirogov Russian National Research Medical University, Ministry of Health of RussiaФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава РоссииS.M. Kirov Military Medical Academy, Ministry of Defense of RussiaФГБОУ ВО «Военно-медицинская академия им. С.М. Кирова» Минобороны РоссииPetrovsky Russian Scientific Center of SurgeryФГБНУ «Российский научный центр хирургии им. акад. Б.В. Петровского»Kazan (Volga Region) Federal UniversityФГАОУ ВО «Казанский (Приволжский) федеральный университет»My Medical Center Advanced Technologies LLCООО «Мой медицинский центр Передовые технологии»Saint Petersburg State Pediatric Medical University, Ministry of Health of RussiaФГБОУ ВО «Санкт-Петербургский государственный педиатрический медицинский университет» Минздрава РоссииGenotarget LLCООО «Генотаргет»Artgen Biotech PJSCПАО «Артген биотех»Genetico PJSCПАО «ЦГРМ «Генетико»2306202616172882206202622062026Copyright ©; 2026, ABV-PressCopyright ©; 2026, АБВ-пресс2026ABV-PressАБВ-прессhttps://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/699

Nemaline myopathies are a heterogeneous group of congenital structural myopathies characterized by rod-shaped inclusions in the sarcoplasm and/or nuclei of muscle fibers. Pathogenic variants in the ACTA1 gene represent the second most frequent cause of nemaline myopathies, with 90 % exhibiting autosomal dominant inheritance. Homozygous pathogenic variants typically are manifested by severe infantile phenotype 2B, whereas the phenotypic spectrum of mild and moderate forms has yet to be systematically categorized.

This article presents an 8-year-old patient with homozygous actinopathy (NM_001100.4(ACTA1):c.661G>C (p.Val221Leu)) corresponding to the typical phenotype of congenital myopathy-2A. Distinctive features of this case were the presence of distal hand joint hypermobility, rimmed vacuolar changes on histological analysis, and abnormal white matter signal intensity on neuroimaging. Magnetic resonance pattern of fatty infiltration and edematous changes in the pelvic girdle and lower extremity muscles were also presented. Combined inheritance of pathogenic homozygous variants in the COQ8A gene (formerly ADCK3) (NM_020247.5(COQ8A):c.1189G>A (p.Val397Met)) required differential diagnosis with primary coenzyme Q10 deficiency, which may involve skeletal muscle pathology.

Немалиновые миопатии – это гетерогенная группа врожденных структурных миопатий, характерным признаком которых являются палочковидные включения в саркоплазме и/или ядрах мышечных волокон. Второе место среди причин немалиновых миопатий занимают патогенные варианты в гене ACTA1, причем 90 % из них наследуются по аутосомно-доминантному типу. Биаллельные патогенные варианты преимущественно проявляются тяжелым младенческим фенотипом 2В, тогда как для легких и умеренных по тяжести форм самостоятельный классификационный фенотип не сформирован.

Представлен пациент 8 лет с гомозиготной актинопатией (NM_001100.4(ACTA1):c.661G>C (p.Val221Leu)) с типичным фенотипом врожденной миопатии 2А. Особенность случая – наличие гипермобильности дистальных суставов кистей, окаймленных вакуолей при гистологическом исследовании и изменений магнитно-резонансных сигнальных характеристик от белого вещества головного мозга. Также представлены особенности магнитно-резонансного паттерна жировой инфильтрации и отечных изменений мышц тазового пояса и нижних конечностей. Сочетанное наследование патогенных гомозиготных вариантов в гене COQ8A (ранее ADCK3) (NM_020247.5(COQ8A):c.1189G>A (p.Val397Met)) потребовало дифференциальной диагностики с первичным дефицитом кофермента Q10, с возможным вовлечением скелетной мускулатуры.

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