<?xml version="1.0" encoding="UTF-8"?>
<!DOCTYPE article PUBLIC "-//NLM//DTD JATS (Z39.96) Journal Publishing DTD v1.3 20210610//EN" "JATS-journalpublishing1-3.dtd">
<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">r-n-j</journal-id><journal-title-group><journal-title xml:lang="ru">Российский неврологический журнал</journal-title><trans-title-group xml:lang="en"><trans-title>Russian neurological journal</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2658-7947</issn><issn pub-type="epub">2686-7192</issn><publisher><publisher-name>МИА</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.30629/2658-7947-2020-25-1-13-22</article-id><article-id custom-type="elpub" pub-id-type="custom">r-n-j-50</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>ОБЗОРЫ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>REVIEWS</subject></subj-group></article-categories><title-group><article-title>Наследственные нервно-мышечные болезни. Часть 2. Мышечные дистрофии: конечностно-поясные, дистальные, окулофарингеальная и окулофарингодистальная формы</article-title><trans-title-group xml:lang="en"><trans-title>Hereditary Neuromuscular Diseases. Part 2. Muscular Dystrophies: Limb-Girdle Types, Distal, Oculopharyngeal and Oculopharyngodistal Forms</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Казаков</surname><given-names>В. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Kazakov</surname><given-names>V. M.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кафедра неврологии ПСПбГМУ им. акад. И.П. Павлова; Отделение нервно-мышечных болезней ГМПб 2.</p><p>Санкт-Петербург</p></bio><bio xml:lang="en"><p>Department of Neurology F. Pavlov SMU; Department of Neuromuscular Diseases, CH 2.</p><p>St. Petersburg</p></bio><email xlink:type="simple">valerykazakov@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><contrib-id contrib-id-type="orcid">https://orcid.org/0000-0002-5884-3110</contrib-id><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Скоромец</surname><given-names>А. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Skoromets</surname><given-names>A. A.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кафедра неврологии.</p><p>Санкт-Петербург</p></bio><bio xml:lang="en"><p>Department of Neurology.</p></bio><email xlink:type="simple">askoromets@gmail.com</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Руденко</surname><given-names>Д. И.</given-names></name><name name-style="western" xml:lang="en"><surname>Rudenko</surname><given-names>D. I.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кафедра неврологии ПСПбГМУ им. акад. И.П. Павлова; Отделение нервно-мышечных болезней ГМПб 2.</p><p>Санкт-Петербург</p></bio><bio xml:lang="en"><p>Department of Neurology F. Pavlov SMU; Department of Neuromuscular Diseases, CH 2.</p><p>St. Petersburg</p></bio><email xlink:type="simple">dmrud_H2@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Стучевская</surname><given-names>Т. Р.</given-names></name><name name-style="western" xml:lang="en"><surname>Stuchevskaya</surname><given-names>T. R.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кафедра неврологии ПСПбГМУ им. акад. И.П. Павлова; Отделение нервно-мышечных болезней ГМПб 2.</p><p>Санкт-Петербург</p></bio><bio xml:lang="en"><p>Department of Neurology F. Pavlov SMU; Department of Neuromuscular Diseases, CH 2.</p></bio><email xlink:type="simple">timamd@gmail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Колынин</surname><given-names>В. О.</given-names></name><name name-style="western" xml:lang="en"><surname>Kolynin</surname><given-names>V. O.</given-names></name></name-alternatives><bio xml:lang="ru"><p>Кафедра неврологии ПСПбГМУ им. акад. И.П. Павлова; Отделение нервно-мышечных болезней ГМПб 2.</p><p>Санкт-Петербург</p></bio><bio xml:lang="en"><p>Department of Neurology F. Pavlov SMU; Department of Neuromuscular Diseases, CH 2.</p><p>St. Petersburg</p></bio><email xlink:type="simple">vkolynin@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ПСПбГМУ им. акад. И.П. Павлова; ГМПб 2</institution><country>Россия</country></aff><aff xml:lang="en"><institution>First Pavlov State Medical University; City Hospital 2</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ПСПбГМУ им. акад. И.П. Павлова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>First Pavlov State Medical University</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>16</day><month>04</month><year>2020</year></pub-date><volume>25</volume><issue>1</issue><fpage>13</fpage><lpage>22</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Казаков В.М., Скоромец А.А., Руденко Д.И., Стучевская Т.Р., Колынин В.О., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Казаков В.М., Скоромец А.А., Руденко Д.И., Стучевская Т.Р., Колынин В.О.</copyright-holder><copyright-holder xml:lang="en">Kazakov V.M., Skoromets A.A., Rudenko D.I., Stuchevskaya T.R., Kolynin V.O.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.r-n-j.com/jour/article/view/50">https://www.r-n-j.com/jour/article/view/50</self-uri><abstract><p>Представлены современная классификация (в модификации), клинико-генетические и диагностические характеристики основных типов мышечных дистрофий (конечностно-поясные, дистальные, окулофарингеальная и окулофарингодистальная формы).</p></abstract><trans-abstract xml:lang="en"><p>Written ofmodern classification ofmuscular dystrophies (in modification), clinical-genetic peculiarities and diagnostics of basic types ofmuscular dystrophies (limb-girdle types, distal types, ocylopharyngeal and oculopharyngodistal).</p></trans-abstract><kwd-group xml:lang="ru"><kwd>классификация мышечных дистрофий</kwd><kwd>клиника и диагностика</kwd></kwd-group><kwd-group xml:lang="en"><kwd>classification of muscular dystrophies</kwd><kwd>clinic and diagnostic</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title><ref id="cit1"><label>1</label><citation-alternatives><mixed-citation xml:lang="ru">Bushby K., Beckmann R. Workshop about pathogenesis of dis-ferlinopathy, caveolinopathy, calpainopathy. Neuromuscul. Disord. 2003;13(1):80-90.</mixed-citation><mixed-citation xml:lang="en">Bushby K., Beckmann R. Workshop about pathogenesis of dis-ferlinopathy, caveolinopathy, calpainopathy. Neuromuscul. Disord. 2003;13(1):80-90.</mixed-citation></citation-alternatives></ref><ref id="cit2"><label>2</label><citation-alternatives><mixed-citation xml:lang="ru">KaplanJ.L., Hamroun D. Gene table of monogenic neuromuscular disorders (nuclear genome only). Neuromuscul. Disord. 2014;24(12):1127-1153.</mixed-citation><mixed-citation xml:lang="en">KaplanJ.L., Hamroun D. Gene table of monogenic neuromuscular disorders (nuclear genome only). Neuromuscul. Disord. 2014;24(12):1127-1153.</mixed-citation></citation-alternatives></ref><ref id="cit3"><label>3</label><citation-alternatives><mixed-citation xml:lang="ru">Ozawa E., Noguchi S., Mizuno et al. From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve. 1998;21(4):421-428.</mixed-citation><mixed-citation xml:lang="en">Ozawa E., Noguchi S., Mizuno et al. From dystrophinopathy to sarcoglycanopathy: evolution of a concept of muscular dystrophy. Muscle Nerve. 1998;21(4):421-428.</mixed-citation></citation-alternatives></ref><ref id="cit4"><label>4</label><citation-alternatives><mixed-citation xml:lang="ru">Kazakov V., Muntoni F., Dubowitz V et al. Calpainopathy. Report of a case from Russia. Abstract. XXXTH Oxford Symposium on muscle disease, Department of Neuropathology and neurology, Oxford, UK, 22-23 July 2005.</mixed-citation><mixed-citation xml:lang="en">Kazakov V., Muntoni F., Dubowitz V et al. Calpainopathy. Report of a case from Russia. Abstract. XXXTH Oxford Symposium on muscle disease, Department of Neuropathology and neurology, Oxford, UK, 22-23 July 2005.</mixed-citation></citation-alternatives></ref><ref id="cit5"><label>5</label><citation-alternatives><mixed-citation xml:lang="ru">Paradas C., Conzalez-Quereda L., De Luna N. et al. A new phenotype of dyspherlinopathy with congenital onset. Neuromuscul. Disord. 2009;19(1):21—25.</mixed-citation><mixed-citation xml:lang="en">Paradas C., Conzalez-Quereda L., De Luna N. et al. A new phenotype of dyspherlinopathy with congenital onset. Neuromuscul. Disord. 2009;19(1):21—25.</mixed-citation></citation-alternatives></ref><ref id="cit6"><label>6</label><citation-alternatives><mixed-citation xml:lang="ru">Diers A., Carl M., Stoltenburg-Didinger G. et al. Painful enlargement of the calf muscles in limbs girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. Neuromuscul. Disord. 2007;17(2):157-162.</mixed-citation><mixed-citation xml:lang="en">Diers A., Carl M., Stoltenburg-Didinger G. et al. Painful enlargement of the calf muscles in limbs girdle muscular dystrophy type 2B (LGMD2B) with a novel compound heterozygous mutation in DYSF. Neuromuscul. Disord. 2007;17(2):157-162.</mixed-citation></citation-alternatives></ref><ref id="cit7"><label>7</label><citation-alternatives><mixed-citation xml:lang="ru">Angelini C., Grisold W., Nigro V. Diagnosis of protein analysis of disferlinopathy in two patients mistaken as polymyositis. Acta Myol. 2011,XXX:185-187.</mixed-citation><mixed-citation xml:lang="en">Angelini C., Grisold W., Nigro V. Diagnosis of protein analysis of disferlinopathy in two patients mistaken as polymyositis. Acta Myol. 2011,XXX:185-187.</mixed-citation></citation-alternatives></ref><ref id="cit8"><label>8</label><citation-alternatives><mixed-citation xml:lang="ru">Olive M., Shatunov A.Q., Gonzalez L. et al. Transcription-terminating in telethonin causing autosomal recessive muscular dystr4ophy type 2C in European patient. Neuromuscul. Disord. 2008;18(12):929-933.</mixed-citation><mixed-citation xml:lang="en">Olive M., Shatunov A.Q., Gonzalez L. et al. Transcription-terminating in telethonin causing autosomal recessive muscular dystr4ophy type 2C in European patient. Neuromuscul. Disord. 2008;18(12):929-933.</mixed-citation></citation-alternatives></ref><ref id="cit9"><label>9</label><citation-alternatives><mixed-citation xml:lang="ru">Ohsawa Y, Okada A., Kuga A. et al. Caveolin-3 regulars myo-statin signaling. Mini-review. Acta Myol. 2008;XXVH:19-24.</mixed-citation><mixed-citation xml:lang="en">Ohsawa Y, Okada A., Kuga A. et al. Caveolin-3 regulars myo-statin signaling. Mini-review. Acta Myol. 2008;XXVH:19-24.</mixed-citation></citation-alternatives></ref><ref id="cit10"><label>10</label><citation-alternatives><mixed-citation xml:lang="ru">Harriet P.Lo., Bertini E., Mirabella M. et al. Mosaic caveoline-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor antibodies. Nero-muscul. Disord. 2011;21(3):194—203.</mixed-citation><mixed-citation xml:lang="en">Harriet P.Lo., Bertini E., Mirabella M. et al. Mosaic caveoline-3 expression in acquired rippling muscle disease without evidence of myasthenia gravis or acetylcholine receptor antibodies. Nero-muscul. Disord. 2011;21(3):194—203.</mixed-citation></citation-alternatives></ref><ref id="cit11"><label>11</label><citation-alternatives><mixed-citation xml:lang="ru">Aboumousa A., Hoogendijk J., Charlton R. et al. Caveolinopa-thy-New mutations and additional symptoms. Neuromuscul. Disord. 2008;18(7):572-578.</mixed-citation><mixed-citation xml:lang="en">Aboumousa A., Hoogendijk J., Charlton R. et al. Caveolinopa-thy-New mutations and additional symptoms. Neuromuscul. Disord. 2008;18(7):572-578.</mixed-citation></citation-alternatives></ref><ref id="cit12"><label>12</label><citation-alternatives><mixed-citation xml:lang="ru">Kazakov V.M., Rudenko D.I. Stuchevskaya T.R. Vladimir Karlovich Roth (1848-1916): the founder of neuromuscular diseases studies in Russia. Acta Myol. 2014;33(1):34-42. (Cited in Scopus).</mixed-citation><mixed-citation xml:lang="en">Kazakov V.M., Rudenko D.I. Stuchevskaya T.R. Vladimir Karlovich Roth (1848-1916): the founder of neuromuscular diseases studies in Russia. Acta Myol. 2014;33(1):34-42. (Cited in Scopus).</mixed-citation></citation-alternatives></ref><ref id="cit13"><label>13</label><citation-alternatives><mixed-citation xml:lang="ru">Welander L. Myopathia distalis tarda hereditary 249 examined cases in 72 pedigrees Stockholm: Esselte aktiebolag. 1951, 124 p.</mixed-citation><mixed-citation xml:lang="en">Welander L. Myopathia distalis tarda hereditary 249 examined cases in 72 pedigrees Stockholm: Esselte aktiebolag. 1951, 124 p.</mixed-citation></citation-alternatives></ref><ref id="cit14"><label>14</label><citation-alternatives><mixed-citation xml:lang="ru">Udd B. Distal myopathy. In: Handbook of Clinical Neurology (Mastaglia, Hilton Jones ed.). 2007;86:216-241.</mixed-citation><mixed-citation xml:lang="en">Udd B. Distal myopathy. In: Handbook of Clinical Neurology (Mastaglia, Hilton Jones ed.). 2007;86:216-241.</mixed-citation></citation-alternatives></ref><ref id="cit15"><label>15</label><citation-alternatives><mixed-citation xml:lang="ru">Hackman P, Marchand S., Sarparanta J. et al. Truncating Mutations in c-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul. Disord. 2008;18(12):922-928.</mixed-citation><mixed-citation xml:lang="en">Hackman P, Marchand S., Sarparanta J. et al. Truncating Mutations in c-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul. Disord. 2008;18(12):922-928.</mixed-citation></citation-alternatives></ref><ref id="cit16"><label>16</label><citation-alternatives><mixed-citation xml:lang="ru">Somer H., Udd B. Distal myopathies. In: Neuromuscular Disorders: Clinical and Molecular Genetics (Ed. A.E.H. Emery), Chichester: Wiley; 1998:181-201.</mixed-citation><mixed-citation xml:lang="en">Somer H., Udd B. Distal myopathies. In: Neuromuscular Disorders: Clinical and Molecular Genetics (Ed. A.E.H. Emery), Chichester: Wiley; 1998:181-201.</mixed-citation></citation-alternatives></ref><ref id="cit17"><label>17</label><citation-alternatives><mixed-citation xml:lang="ru">Sunohara N., Nonaka I., Kamei N. et al. Distal myopathy with rimmed vacuole formation. Brain. 1989;112:65-83.</mixed-citation><mixed-citation xml:lang="en">Sunohara N., Nonaka I., Kamei N. et al. Distal myopathy with rimmed vacuole formation. Brain. 1989;112:65-83.</mixed-citation></citation-alternatives></ref><ref id="cit18"><label>18</label><citation-alternatives><mixed-citation xml:lang="ru">Bouchard J-P., Brais B., Tome F.M.S. Oculopharyngeal muscular dystrophy. In: Neuromuscular Disorders: Clinical and Molecular Genetics (Ed. A.E.H. Emery), Chichester: Wiley;1998:157-174.</mixed-citation><mixed-citation xml:lang="en">Bouchard J-P., Brais B., Tome F.M.S. Oculopharyngeal muscular dystrophy. In: Neuromuscular Disorders: Clinical and Molecular Genetics (Ed. A.E.H. Emery), Chichester: Wiley;1998:157-174.</mixed-citation></citation-alternatives></ref><ref id="cit19"><label>19</label><citation-alternatives><mixed-citation xml:lang="ru">Thevathasan W., Squier W., Maclver D.H. et al. Oculopharyngo-distal myopathy — A possible association with cardiomyopathy. Neuromuscul. Disord. 2011;21:121-125.</mixed-citation><mixed-citation xml:lang="en">Thevathasan W., Squier W., Maclver D.H. et al. Oculopharyngo-distal myopathy — A possible association with cardiomyopathy. Neuromuscul. Disord. 2011;21:121-125.</mixed-citation></citation-alternatives></ref><ref id="cit20"><label>20</label><citation-alternatives><mixed-citation xml:lang="ru">Bonne G., Rivier F., Hamroun D. Gene table of monogenic neuromuscular disorders (nuclear genome only). Neuromuscul. Disord. 2019;29(12):980-1018.</mixed-citation><mixed-citation xml:lang="en">Bonne G., Rivier F., Hamroun D. Gene table of monogenic neuromuscular disorders (nuclear genome only). Neuromuscul. Disord. 2019;29(12):980-1018.</mixed-citation></citation-alternatives></ref></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
