Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei
Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently reported in patients with centronuclear myopath...
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| Veröffentlicht in: | Journal of neuromuscular diseases 2018, Vol.5 (2), p.257-260 |
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| container_title | Journal of neuromuscular diseases |
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| creator | Lornage, Xavière Sabouraud, Pascal Lannes, Béatrice Gaillard, Dominique Schneider, Raphaël Deleuze, Jean-François Boland, Anne Thompson, Julie Böhm, Johann Biancalana, Valérie Laporte, Jocelyn |
| description | Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently reported in patients with centronuclear myopathy (CNM) associated in most cases with dilated cardiomyopathy. Here we report the identification of novel biallelic truncating SPEG mutations in a patient with moderate congenital myopathy without clinical and histological hallmarks of CNM and without cardiomyopathy. This study expands the phenotypic spectrum of SPEG-related myopathy and prompts to consider SPEG for congenital myopathies without specific histological features. |
| doi_str_mv | 10.3233/JND-170265 |
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Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently reported in patients with centronuclear myopathy (CNM) associated in most cases with dilated cardiomyopathy. Here we report the identification of novel biallelic truncating SPEG mutations in a patient with moderate congenital myopathy without clinical and histological hallmarks of CNM and without cardiomyopathy. This study expands the phenotypic spectrum of SPEG-related myopathy and prompts to consider SPEG for congenital myopathies without specific histological features.</description><identifier>ISSN: 2214-3599</identifier><identifier>EISSN: 2214-3602</identifier><identifier>DOI: 10.3233/JND-170265</identifier><identifier>PMID: 29614691</identifier><language>eng</language><publisher>London, England: SAGE Publications</publisher><subject>Cardiomyopathy ; Child ; Codon, Nonsense ; Dilated cardiomyopathy ; Female ; Frameshift Mutation ; Genetics ; Humans ; Kinases ; Life Sciences ; Magnetic Resonance Imaging ; Muscle Proteins - genetics ; Muscle, Skeletal - diagnostic imaging ; Muscle, Skeletal - pathology ; Mutation ; Myopathies, Structural, Congenital - genetics ; Myopathy ; Myotonia Congenita - diagnostic imaging ; Myotonia Congenita - genetics ; Myotonia Congenita - pathology ; Nuclei ; Phenotypes ; Protein kinase ; Protein-Serine-Threonine Kinases - genetics ; Skeletal muscle</subject><ispartof>Journal of neuromuscular diseases, 2018, Vol.5 (2), p.257-260</ispartof><rights>2018 – IOS Press and the authors. All rights reserved</rights><rights>Copyright IOS Press BV 2018</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c403t-b41dd9f004bf2a1afe0f904bfcb9f14300a2ea1c2c0b3623ecd77813a4c2a57d3</citedby><cites>FETCH-LOGICAL-c403t-b41dd9f004bf2a1afe0f904bfcb9f14300a2ea1c2c0b3623ecd77813a4c2a57d3</cites><orcidid>0000-0003-4893-3478 ; 0000-0002-8988-5508 ; 0000-0003-1631-8796 ; 0000-0002-5358-4463 ; 0000-0001-8789-5676</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://journals.sagepub.com/doi/pdf/10.3233/JND-170265$$EPDF$$P50$$Gsage$$H</linktopdf><linktohtml>$$Uhttps://journals.sagepub.com/doi/10.3233/JND-170265$$EHTML$$P50$$Gsage$$H</linktohtml><link.rule.ids>230,314,780,784,885,4024,21966,27853,27923,27924,27925,44945,45333</link.rule.ids><linktorsrc>$$Uhttps://journals.sagepub.com/doi/full/10.3233/JND-170265?utm_source=summon&utm_medium=discovery-provider$$EView_record_in_SAGE_Publications$$FView_record_in_$$GSAGE_Publications</linktorsrc><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/29614691$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-03664348$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Lornage, Xavière</creatorcontrib><creatorcontrib>Sabouraud, Pascal</creatorcontrib><creatorcontrib>Lannes, Béatrice</creatorcontrib><creatorcontrib>Gaillard, Dominique</creatorcontrib><creatorcontrib>Schneider, Raphaël</creatorcontrib><creatorcontrib>Deleuze, Jean-François</creatorcontrib><creatorcontrib>Boland, Anne</creatorcontrib><creatorcontrib>Thompson, Julie</creatorcontrib><creatorcontrib>Böhm, Johann</creatorcontrib><creatorcontrib>Biancalana, Valérie</creatorcontrib><creatorcontrib>Laporte, Jocelyn</creatorcontrib><title>Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei</title><title>Journal of neuromuscular diseases</title><addtitle>J Neuromuscul Dis</addtitle><description>Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently reported in patients with centronuclear myopathy (CNM) associated in most cases with dilated cardiomyopathy. Here we report the identification of novel biallelic truncating SPEG mutations in a patient with moderate congenital myopathy without clinical and histological hallmarks of CNM and without cardiomyopathy. 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Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently reported in patients with centronuclear myopathy (CNM) associated in most cases with dilated cardiomyopathy. Here we report the identification of novel biallelic truncating SPEG mutations in a patient with moderate congenital myopathy without clinical and histological hallmarks of CNM and without cardiomyopathy. 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| ispartof | Journal of neuromuscular diseases, 2018, Vol.5 (2), p.257-260 |
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| language | eng |
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| source | Sage Journals GOLD Open Access 2024 |
| subjects | Cardiomyopathy Child Codon, Nonsense Dilated cardiomyopathy Female Frameshift Mutation Genetics Humans Kinases Life Sciences Magnetic Resonance Imaging Muscle Proteins - genetics Muscle, Skeletal - diagnostic imaging Muscle, Skeletal - pathology Mutation Myopathies, Structural, Congenital - genetics Myopathy Myotonia Congenita - diagnostic imaging Myotonia Congenita - genetics Myotonia Congenita - pathology Nuclei Phenotypes Protein kinase Protein-Serine-Threonine Kinases - genetics Skeletal muscle |
| title | Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei |
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