Skeletal Muscle最新文献

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Defective angiogenesis in CXCL12 mutant mice impairs skeletal muscle regeneration CXCL12突变小鼠血管生成缺陷损害骨骼肌再生
IF 4.9 2区 医学
Skeletal Muscle Pub Date : 2019-09-18 DOI: 10.1186/s13395-019-0210-5
D. Hardy, Mylène Fefeu, Aurore Besnard, David Briand, P. Gasse, F. Arenzana‐Seisdedos, P. Rocheteau, F. Chrétien
{"title":"Defective angiogenesis in CXCL12 mutant mice impairs skeletal muscle regeneration","authors":"D. Hardy, Mylène Fefeu, Aurore Besnard, David Briand, P. Gasse, F. Arenzana‐Seisdedos, P. Rocheteau, F. Chrétien","doi":"10.1186/s13395-019-0210-5","DOIUrl":"https://doi.org/10.1186/s13395-019-0210-5","url":null,"abstract":"","PeriodicalId":21747,"journal":{"name":"Skeletal Muscle","volume":" ","pages":""},"PeriodicalIF":4.9,"publicationDate":"2019-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13395-019-0210-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42217089","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 12
Immunohistochemical phenotyping of T cells, granulocytes, and phagocytes in the muscle of cancer patients: association with radiologically defined muscle mass and gene expression 癌症患者肌肉中T细胞、粒细胞和吞噬细胞的免疫组织化学表型:与放射学定义的肌肉质量和基因表达的关系
IF 4.9 2区 医学
Skeletal Muscle Pub Date : 2019-09-14 DOI: 10.1186/s13395-019-0209-y
A. Añoveros-Barrera, A. Bhullar, C. Stretch, A. Dunichand-Hoedl, K. Martins, A. Rieger, D. Bigam, T. McMullen, O. Bathe, C. T. Putman, C. Field, V. Baracos, V. Mazurak
{"title":"Immunohistochemical phenotyping of T cells, granulocytes, and phagocytes in the muscle of cancer patients: association with radiologically defined muscle mass and gene expression","authors":"A. Añoveros-Barrera, A. Bhullar, C. Stretch, A. Dunichand-Hoedl, K. Martins, A. Rieger, D. Bigam, T. McMullen, O. Bathe, C. T. Putman, C. Field, V. Baracos, V. Mazurak","doi":"10.1186/s13395-019-0209-y","DOIUrl":"https://doi.org/10.1186/s13395-019-0209-y","url":null,"abstract":"","PeriodicalId":21747,"journal":{"name":"Skeletal Muscle","volume":" ","pages":""},"PeriodicalIF":4.9,"publicationDate":"2019-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13395-019-0209-y","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41736515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 13
Ibuprofen inhibited migration of skeletal muscle cells in association with downregulation of p130cas and CrkII expressions 布洛芬抑制骨骼肌细胞迁移与p130cas和CrkII表达下调有关
IF 4.9 2区 医学
Skeletal Muscle Pub Date : 2019-08-29 DOI: 10.1186/s13395-019-0208-z
Chih-Hao Liao, Li-Ping Lin, Tung-Yang Yu, Chih-Chin Hsu, Jong‐Hwei S. Pang, W. Tsai
{"title":"Ibuprofen inhibited migration of skeletal muscle cells in association with downregulation of p130cas and CrkII expressions","authors":"Chih-Hao Liao, Li-Ping Lin, Tung-Yang Yu, Chih-Chin Hsu, Jong‐Hwei S. Pang, W. Tsai","doi":"10.1186/s13395-019-0208-z","DOIUrl":"https://doi.org/10.1186/s13395-019-0208-z","url":null,"abstract":"","PeriodicalId":21747,"journal":{"name":"Skeletal Muscle","volume":" ","pages":""},"PeriodicalIF":4.9,"publicationDate":"2019-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13395-019-0208-z","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42149816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
miR-146a deficiency does not aggravate muscular dystrophy in mdx mice miR-146a缺乏并不会加重mdx小鼠的肌营养不良
IF 4.9 2区 医学
Skeletal Muscle Pub Date : 2019-08-14 DOI: 10.1186/s13395-019-0207-0
Iwona Bronisz-Budzyńska, Katarzyna Chwalenia, Olga Mucha, P. Podkalicka, Karolina-Bukowska-Strakova, A. Józkowicz, A. Łoboda, M. Kozakowska, J. Dulak
{"title":"miR-146a deficiency does not aggravate muscular dystrophy in mdx mice","authors":"Iwona Bronisz-Budzyńska, Katarzyna Chwalenia, Olga Mucha, P. Podkalicka, Karolina-Bukowska-Strakova, A. Józkowicz, A. Łoboda, M. Kozakowska, J. Dulak","doi":"10.1186/s13395-019-0207-0","DOIUrl":"https://doi.org/10.1186/s13395-019-0207-0","url":null,"abstract":"","PeriodicalId":21747,"journal":{"name":"Skeletal Muscle","volume":" ","pages":""},"PeriodicalIF":4.9,"publicationDate":"2019-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13395-019-0207-0","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48350974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 19
NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy NAD+改善fkrp相关糖营养不良斑马鱼模型的神经肌肉发育
IF 4.9 2区 医学
Skeletal Muscle Pub Date : 2019-08-07 DOI: 10.1186/s13395-019-0206-1
E. Bailey, Sarah S. Alrowaished, Elisabeth A. Kilroy, Emma S. Crooks, Daisy M. Drinkert, Chaya M. Karunasiri, Joseph J. Belanger, A. Khalil, Joshua B. Kelley, C. Henry
{"title":"NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy","authors":"E. Bailey, Sarah S. Alrowaished, Elisabeth A. Kilroy, Emma S. Crooks, Daisy M. Drinkert, Chaya M. Karunasiri, Joseph J. Belanger, A. Khalil, Joshua B. Kelley, C. Henry","doi":"10.1186/s13395-019-0206-1","DOIUrl":"https://doi.org/10.1186/s13395-019-0206-1","url":null,"abstract":"","PeriodicalId":21747,"journal":{"name":"Skeletal Muscle","volume":" ","pages":""},"PeriodicalIF":4.9,"publicationDate":"2019-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13395-019-0206-1","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46646228","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 18
Estrogen signaling effects on muscle-specific immune responses through controlling the recruitment and function of macrophages and T cells 雌激素信号通过控制巨噬细胞和T细胞的募集和功能对肌肉特异性免疫反应的影响
IF 4.9 2区 医学
Skeletal Muscle Pub Date : 2019-07-29 DOI: 10.1186/s13395-019-0205-2
Zhaohong Liao, Tao Huang, Jiangwei Xiao, Ruicai Gu, Jun Ouyang, Gang Wu, Hua Liao
{"title":"Estrogen signaling effects on muscle-specific immune responses through controlling the recruitment and function of macrophages and T cells","authors":"Zhaohong Liao, Tao Huang, Jiangwei Xiao, Ruicai Gu, Jun Ouyang, Gang Wu, Hua Liao","doi":"10.1186/s13395-019-0205-2","DOIUrl":"https://doi.org/10.1186/s13395-019-0205-2","url":null,"abstract":"","PeriodicalId":21747,"journal":{"name":"Skeletal Muscle","volume":" ","pages":""},"PeriodicalIF":4.9,"publicationDate":"2019-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13395-019-0205-2","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44335018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 31
Regulation of murine skeletal muscle growth by STAT5B is age- and sex-specific. STAT5B对小鼠骨骼肌生长的调节具有年龄和性别特异性。
IF 4.9 2区 医学
Skeletal Muscle Pub Date : 2019-06-24 DOI: 10.1186/s13395-019-0204-3
Ryan G Paul, Alex S Hennebry, Marianne S Elston, John V Conaglen, Chris D McMahon
{"title":"Regulation of murine skeletal muscle growth by STAT5B is age- and sex-specific.","authors":"Ryan G Paul,&nbsp;Alex S Hennebry,&nbsp;Marianne S Elston,&nbsp;John V Conaglen,&nbsp;Chris D McMahon","doi":"10.1186/s13395-019-0204-3","DOIUrl":"https://doi.org/10.1186/s13395-019-0204-3","url":null,"abstract":"<p><strong>Background: </strong>Sexually dimorphic growth has been attributed to the growth hormone (GH)/insulin-like growth factor 1 (IGF1) axis, particularly GH-induced activation of the intracellular signal transducer and activator of transcription 5B (STAT5B), because deletion of STAT5B reduces body mass and the mass of skeletal muscles in male mice to that in female mice. However, it remains unclear why these effects are sex- and species-specific, because the loss of STAT5B retards growth in girls, but not in male mice. Our objectives were to determine whether sexually dimorphic growth of skeletal muscle persisted in STAT5B<sup>-/-</sup> mice and investigate the mechanisms by which STAT5B regulates sexually dimorphic growth.</p><p><strong>Methods: </strong>Blood and skeletal muscle were harvested from male and female STAT5B<sup>-/-</sup> mice and their wild-type littermates from the onset of puberty to adulthood.</p><p><strong>Results: </strong>Growth of the skeleton and skeletal muscles was retarded in both sexes of STAT5B<sup>-/-</sup> mice, but more so in males. Although reduced, sexually dimorphic growth of skeletal muscle persisted in STAT5B<sup>-/-</sup> mice with an oxidative shift in the composition of myofibres in both sexes. Concentrations of IGF1 in blood and skeletal muscle were reduced in male STAT5B<sup>-/-</sup> mice at all ages, but only in female STAT5B<sup>-/-</sup> mice at the onset of puberty. Expression of androgen receptor (AR) and oestrogen receptor alpha (ERα) mRNA and protein was reduced in skeletal muscles of male and female STAT5B<sup>-/-</sup> mice, respectively. Loss of STAT5B abolished the sexually dimorphic expression of myostatin protein and Igf1, Ar, Erα, suppressor of cytokine signalling 2 (Socs2), and cytokine-inducible SH2-containing protein (Cis) mRNA in skeletal muscle.</p><p><strong>Conclusions: </strong>STAT5B appears to mediate GH signalling in skeletal muscles of male mice at all ages, but only until puberty in female mice. STAT5B also appears to mediate the actions of androgens and oestrogens in both male and female mice, but sexually dimorphic growth persists in STAT5B<sup>-/-</sup> mice.</p>","PeriodicalId":21747,"journal":{"name":"Skeletal Muscle","volume":"9 1","pages":"19"},"PeriodicalIF":4.9,"publicationDate":"2019-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13395-019-0204-3","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37094681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
Muscle injury-induced hypoxia alters the proliferation and differentiation potentials of muscle resident stromal cells. 肌肉损伤引起的缺氧改变了肌肉常驻间质细胞的增殖和分化潜能。
IF 4.9 2区 医学
Skeletal Muscle Pub Date : 2019-06-19 DOI: 10.1186/s13395-019-0202-5
Geneviève Drouin, Vanessa Couture, Marc-Antoine Lauzon, Frédéric Balg, Nathalie Faucheux, Guillaume Grenier
{"title":"Muscle injury-induced hypoxia alters the proliferation and differentiation potentials of muscle resident stromal cells.","authors":"Geneviève Drouin,&nbsp;Vanessa Couture,&nbsp;Marc-Antoine Lauzon,&nbsp;Frédéric Balg,&nbsp;Nathalie Faucheux,&nbsp;Guillaume Grenier","doi":"10.1186/s13395-019-0202-5","DOIUrl":"https://doi.org/10.1186/s13395-019-0202-5","url":null,"abstract":"<p><strong>Background: </strong>Trauma-induced heterotopic ossification (HO) is a complication that develops under three conditions: the presence of an osteogenic progenitor cell, an inducing factor, and a permissive environment. We previously showed that a mouse multipotent Sca1<sup>+</sup> CD31<sup>-</sup> Lin<sup>-</sup> muscle resident stromal cell (mrSC) population is involved in the development of HO in the presence of inducing factors, members of the bone morphogenetic protein family. Interestingly, BMP9 unlike BMP2 causes HO only if the muscle is damaged by injection of cardiotoxin. Because acute trauma often results in blood vessel breakdown, we hypothesized that a hypoxic state in damaged muscles may foster mrSCs activation and proliferation and trigger differentiation toward an osteogenic lineage, thus promoting the development of HO.</p><p><strong>Methods: </strong>Three- to - six-month-old male C57Bl/6 mice were used to induce muscle damage by injection of cardiotoxin intramuscularly into the tibialis anterior and gastrocnemius muscles. mrSCs were isolated from damaged (hypoxic state) and contralateral healthy muscles and counted, and their osteoblastic differentiation with or without BMP2 and BMP9 was determined by alkaline phosphatase activity measurement. The proliferation and differentiation of mrSCs isolated from healthy muscles was also studied in normoxic incubator and hypoxic conditions. The effect of hypoxia on BMP synthesis and Smad pathway activation was determined by qPCR and/or Western blot analyses. Differences between normally distributed groups were compared using a Student's paired t test or an unpaired t test.</p><p><strong>Results: </strong>The hypoxic state of a severely damaged muscle increased the proliferation and osteogenic differentiation of mrSCs. mrSCs isolated from damaged muscles also displayed greater sensitivity to osteogenic signals, especially BMP9, than did mrSCs from a healthy muscle. In hypoxic conditions, mrSCs isolated from a control muscle were more proliferative and were more prone to osteogenic differentiation. Interestingly, Smad1/5/8 activation was detected in hypoxic conditions and was still present after 5 days, while Smad1/5/8 phosphorylation could not be detected after 3 h of normoxic incubator condition. BMP9 mRNA transcripts and protein levels were higher in mrSCs cultured in hypoxic conditions. Our results suggest that low-oxygen levels in damaged muscle influence mrSC behavior by facilitating their differentiation into osteoblasts. This effect may be mediated partly through the activation of the Smad pathway and the expression of osteoinductive growth factors such as BMP9 by mrSCs.</p><p><strong>Conclusion: </strong>Hypoxia should be considered a key factor in the microenvironment of damaged muscle that triggers HO.</p>","PeriodicalId":21747,"journal":{"name":"Skeletal Muscle","volume":"9 1","pages":"18"},"PeriodicalIF":4.9,"publicationDate":"2019-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13395-019-0202-5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37343635","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 18
Culturing C2C12 myotubes on micromolded gelatin hydrogels accelerates myotube maturation. 微成型明胶水凝胶培养C2C12肌管加速肌管成熟。
IF 4.9 2区 医学
Skeletal Muscle Pub Date : 2019-06-07 DOI: 10.1186/s13395-019-0203-4
Lance T Denes, Lance A Riley, Joseph R Mijares, Juan D Arboleda, Kendra McKee, Karyn A Esser, Eric T Wang
{"title":"Culturing C2C12 myotubes on micromolded gelatin hydrogels accelerates myotube maturation.","authors":"Lance T Denes,&nbsp;Lance A Riley,&nbsp;Joseph R Mijares,&nbsp;Juan D Arboleda,&nbsp;Kendra McKee,&nbsp;Karyn A Esser,&nbsp;Eric T Wang","doi":"10.1186/s13395-019-0203-4","DOIUrl":"https://doi.org/10.1186/s13395-019-0203-4","url":null,"abstract":"<p><strong>Background: </strong>Skeletal muscle contributes to roughly 40% of lean body mass, and its loss contributes to morbidity and mortality in a variety of pathogenic conditions. Significant insights into muscle function have been made using cultured cells, in particular, the C2C12 myoblast line. However, differentiation of these cells in vitro typically yields immature myotubes relative to skeletal muscles in vivo. While many efforts have attempted to improve the maturity of cultured myotubes, including the use of bioengineered substrates, lack of molecular characterization has precluded their widespread implementation. This study characterizes morphological, molecular, and transcriptional features of C2C12 myotubes cultured on crosslinked, micropatterned gelatin substrates fabricated using previously established methods and compares them to myotubes grown on unpatterned gelatin or traditional plasticware.</p><p><strong>Methods: </strong>We used immunocytochemistry, SDS-PAGE, and RNAseq to characterize C2C12 myotubes grown on micropatterned gelatin hydrogels, unpatterned gelatin hydrogels, and typical cell culture substrates (i.e., plastic or collagen-coated glass) across a differentiation time course. The ability to form aligned sarcomeres and myofilament protein concentration was assessed. Additionally, the transcriptome was analyzed across the differentiation time course.</p><p><strong>Results: </strong>C2C12 myotubes grown on micropatterned gelatin hydrogels display an increased ability to form aligned sarcomeres as well as increased contractile protein content relative to myotubes cultured on unpatterned gelatin and plastic. Additionally, genes related to sarcomere formation and in vivo muscle maturation are upregulated in myotubes grown on micropatterned gelatin hydrogels relative to control myotubes.</p><p><strong>Conclusions: </strong>Our results suggest that growing C2C12 myotubes on micropatterned gelatin hydrogels accelerates sarcomere formation and yields a more fully matured myotube culture. Thus, the use of micropatterned hydrogels is a viable and simple approach to better model skeletal muscle biology in vitro.</p>","PeriodicalId":21747,"journal":{"name":"Skeletal Muscle","volume":"9 1","pages":"17"},"PeriodicalIF":4.9,"publicationDate":"2019-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13395-019-0203-4","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37314450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 65
Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation. 纯合子myopalladin (MYPN)突变引起的先天性大脚趾悬垂性肌病。
IF 4.9 2区 医学
Skeletal Muscle Pub Date : 2019-05-27 DOI: 10.1186/s13395-019-0199-9
Luciano Merlini, Patrizia Sabatelli, Manuela Antoniel, Valeria Carinci, Fabio Niro, Giuseppe Monetti, Annalaura Torella, Teresa Giugliano, Cesare Faldini, Vincenzo Nigro
{"title":"Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation.","authors":"Luciano Merlini,&nbsp;Patrizia Sabatelli,&nbsp;Manuela Antoniel,&nbsp;Valeria Carinci,&nbsp;Fabio Niro,&nbsp;Giuseppe Monetti,&nbsp;Annalaura Torella,&nbsp;Teresa Giugliano,&nbsp;Cesare Faldini,&nbsp;Vincenzo Nigro","doi":"10.1186/s13395-019-0199-9","DOIUrl":"https://doi.org/10.1186/s13395-019-0199-9","url":null,"abstract":"<p><strong>Background: </strong>Myopalladin (MYPN) is a component of the sarcomere that tethers nebulin in skeletal muscle and nebulette in cardiac muscle to alpha-actinin at the Z lines. Autosomal dominant MYPN mutations cause hypertrophic, dilated, or restrictive cardiomyopathy. Autosomal recessive MYPN mutations have been reported in only six families showing a mildly progressive nemaline or cap myopathy with cardiomyopathy in some patients.</p><p><strong>Case presentation: </strong>A consanguineous family with congenital to adult-onset muscle weakness and hanging big toe was reported. Muscle biopsy showed minimal changes with internal nuclei, type 1 fiber predominance, and ultrastructural defects of Z line. Muscle CT imaging showed marked hypodensity of the sartorius bilaterally and MRI scattered abnormal high-intensity areas in the internal tongue muscle and in the posterior cervical muscles. Cardiac involvement was demonstrated by magnetic resonance imaging and late gadolinium enhancement. Whole exome sequencing analysis identified a homozygous loss of function single nucleotide deletion in the exon 11 of the MYPN gene in two siblings. Full-length MYPN protein was undetectable on immunoblotting, and on immunofluorescence, its localization at the Z line was missed.</p><p><strong>Conclusions: </strong>This report extends the phenotypic spectrum of recessive MYPN-related myopathies showing: (1) the two patients had hanging big toe and the oldest one developed spine and hand contractures, none of these signs observed in the previously reported patients, (2) specific ultrastructural changes consisting in Z line fragmentation, but (3) no nemaline or caps on muscle pathology.</p>","PeriodicalId":21747,"journal":{"name":"Skeletal Muscle","volume":"9 1","pages":"14"},"PeriodicalIF":4.9,"publicationDate":"2019-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/s13395-019-0199-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"37278740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
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