Clinical, genetic, and pathological characterization of GNE myopathy in China
Background GNE myopathy is the most common distal myopathy in China. We summarized the clinical, genetic, and pathological characteristics of 125 Chinese patients with GNE myopathy. Methods We collected clinical data of 21 patients diagnosed at our hospital and 104 patients from previous reports. Cl...
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| Veröffentlicht in: | Neurological sciences 2022-07, Vol.43 (7), p.4483-4491 |
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| creator | Lv, Xiao-Qing Xu, Ling Lin, Peng-Fei Yan, Chuan-Zhu |
| description | Background
GNE myopathy is the most common distal myopathy in China. We summarized the clinical, genetic, and pathological characteristics of 125 Chinese patients with GNE myopathy.
Methods
We collected clinical data of 21 patients diagnosed at our hospital and 104 patients from previous reports. Clinical, genetic, and pathological characteristics were summarized. According to the location of mutations, patients were classified into groups to analyze genotype–phenotype correlation. We reviewed the pathological features and studied the expressions of neural cell adhesion molecule.
Results
The severity of involvement of lower limb muscles was in the following order: tibialis anterior > biceps femoris > gastrocnemius > iliopsoas > quadriceps femoris. Mutation p.D207V was the most common variant in China. Patients carrying p.D207V tended to show later disease onset. In the epimerase/epimerase group, men had earlier disease onset than women (
p
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| doi_str_mv | 10.1007/s10072-022-05938-8 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2627133314</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2678987245</sourcerecordid><originalsourceid>FETCH-LOGICAL-c375t-bfcefc6fa2a539fd3430cbf64b3f11eef44c217bb2471198b48f1aeaad432923</originalsourceid><addsrcrecordid>eNp9kM1OAyEURonRWK2-gAtD4sZFR_mbwizNpFaTqpvuCUOhpZlChemiPr3UVk1cuOBCcs_9uDkAXGF0hxHi92lXSYFIPmVFRSGOwBkuK1RQxsXx4Y0FZz1wntISIYQZpqegR0tMRWbOwEvdOu-0agdwbrzpnB5A5WdwrbpFaMN814J6oaLSnYnuQ3UueBgsHL-O4GobdtwWOg_rhfPqApxY1SZzebj7YPo4mtZPxeRt_Fw_TApNedkVjdXG6qFVRJW0sjPKKNKNHbKGWoyNsYxpgnnTEMYxrkTDhMXKKDVjlFSE9sHtPnYdw_vGpE6uXNKmbZU3YZMkGRKOKaWYZfTmD7oMm-jzcpniohKcsDJTZE_pGFKKxsp1dCsVtxIjubMs965ldi2_XEuRh64P0ZtmZWY_I99yM0D3QMotPzfx9-9_Yj8BrdCJGw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2678987245</pqid></control><display><type>article</type><title>Clinical, genetic, and pathological characterization of GNE myopathy in China</title><source>SpringerLink Journals - AutoHoldings</source><creator>Lv, Xiao-Qing ; Xu, Ling ; Lin, Peng-Fei ; Yan, Chuan-Zhu</creator><creatorcontrib>Lv, Xiao-Qing ; Xu, Ling ; Lin, Peng-Fei ; Yan, Chuan-Zhu</creatorcontrib><description>Background
GNE myopathy is the most common distal myopathy in China. We summarized the clinical, genetic, and pathological characteristics of 125 Chinese patients with GNE myopathy.
Methods
We collected clinical data of 21 patients diagnosed at our hospital and 104 patients from previous reports. Clinical, genetic, and pathological characteristics were summarized. According to the location of mutations, patients were classified into groups to analyze genotype–phenotype correlation. We reviewed the pathological features and studied the expressions of neural cell adhesion molecule.
Results
The severity of involvement of lower limb muscles was in the following order: tibialis anterior > biceps femoris > gastrocnemius > iliopsoas > quadriceps femoris. Mutation p.D207V was the most common variant in China. Patients carrying p.D207V tended to show later disease onset. In the epimerase/epimerase group, men had earlier disease onset than women (
p
< 0.05). In other groups, age at disease onset in females was earlier than that in males. Protein analysis showed decreased sialylation of NCAM and upregulation of LC3 in patients with different mutations.
Conclusions
Mutation p.D207V is the most common GNE variant in China. Involvement of flexor muscles in lower limbs was more obvious than extensor muscles. NCAM expression in patients with various mutations may be a useful diagnostic biomarker in GNE myopathy.</description><identifier>ISSN: 1590-1874</identifier><identifier>EISSN: 1590-3478</identifier><identifier>DOI: 10.1007/s10072-022-05938-8</identifier><identifier>PMID: 35138478</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Cell adhesion molecules ; Epimerase ; Genotypes ; Medicine ; Medicine & Public Health ; Muscles ; Mutation ; Myopathy ; Neural cell adhesion molecule ; Neurology ; Neuroradiology ; Neurosciences ; Neurosurgery ; Original Article ; Patients ; Phenotypes ; Psychiatry ; Quadriceps muscle ; Skeletal muscle</subject><ispartof>Neurological sciences, 2022-07, Vol.43 (7), p.4483-4491</ispartof><rights>Fondazione Società Italiana di Neurologia 2022</rights><rights>2022. Fondazione Società Italiana di Neurologia.</rights><rights>Fondazione Società Italiana di Neurologia 2022.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c375t-bfcefc6fa2a539fd3430cbf64b3f11eef44c217bb2471198b48f1aeaad432923</citedby><cites>FETCH-LOGICAL-c375t-bfcefc6fa2a539fd3430cbf64b3f11eef44c217bb2471198b48f1aeaad432923</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10072-022-05938-8$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10072-022-05938-8$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/35138478$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lv, Xiao-Qing</creatorcontrib><creatorcontrib>Xu, Ling</creatorcontrib><creatorcontrib>Lin, Peng-Fei</creatorcontrib><creatorcontrib>Yan, Chuan-Zhu</creatorcontrib><title>Clinical, genetic, and pathological characterization of GNE myopathy in China</title><title>Neurological sciences</title><addtitle>Neurol Sci</addtitle><addtitle>Neurol Sci</addtitle><description>Background
GNE myopathy is the most common distal myopathy in China. We summarized the clinical, genetic, and pathological characteristics of 125 Chinese patients with GNE myopathy.
Methods
We collected clinical data of 21 patients diagnosed at our hospital and 104 patients from previous reports. Clinical, genetic, and pathological characteristics were summarized. According to the location of mutations, patients were classified into groups to analyze genotype–phenotype correlation. We reviewed the pathological features and studied the expressions of neural cell adhesion molecule.
Results
The severity of involvement of lower limb muscles was in the following order: tibialis anterior > biceps femoris > gastrocnemius > iliopsoas > quadriceps femoris. Mutation p.D207V was the most common variant in China. Patients carrying p.D207V tended to show later disease onset. In the epimerase/epimerase group, men had earlier disease onset than women (
p
< 0.05). In other groups, age at disease onset in females was earlier than that in males. Protein analysis showed decreased sialylation of NCAM and upregulation of LC3 in patients with different mutations.
Conclusions
Mutation p.D207V is the most common GNE variant in China. Involvement of flexor muscles in lower limbs was more obvious than extensor muscles. NCAM expression in patients with various mutations may be a useful diagnostic biomarker in GNE myopathy.</description><subject>Cell adhesion molecules</subject><subject>Epimerase</subject><subject>Genotypes</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Muscles</subject><subject>Mutation</subject><subject>Myopathy</subject><subject>Neural cell adhesion molecule</subject><subject>Neurology</subject><subject>Neuroradiology</subject><subject>Neurosciences</subject><subject>Neurosurgery</subject><subject>Original Article</subject><subject>Patients</subject><subject>Phenotypes</subject><subject>Psychiatry</subject><subject>Quadriceps muscle</subject><subject>Skeletal muscle</subject><issn>1590-1874</issn><issn>1590-3478</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><sourceid>BENPR</sourceid><recordid>eNp9kM1OAyEURonRWK2-gAtD4sZFR_mbwizNpFaTqpvuCUOhpZlChemiPr3UVk1cuOBCcs_9uDkAXGF0hxHi92lXSYFIPmVFRSGOwBkuK1RQxsXx4Y0FZz1wntISIYQZpqegR0tMRWbOwEvdOu-0agdwbrzpnB5A5WdwrbpFaMN814J6oaLSnYnuQ3UueBgsHL-O4GobdtwWOg_rhfPqApxY1SZzebj7YPo4mtZPxeRt_Fw_TApNedkVjdXG6qFVRJW0sjPKKNKNHbKGWoyNsYxpgnnTEMYxrkTDhMXKKDVjlFSE9sHtPnYdw_vGpE6uXNKmbZU3YZMkGRKOKaWYZfTmD7oMm-jzcpniohKcsDJTZE_pGFKKxsp1dCsVtxIjubMs965ldi2_XEuRh64P0ZtmZWY_I99yM0D3QMotPzfx9-9_Yj8BrdCJGw</recordid><startdate>20220701</startdate><enddate>20220701</enddate><creator>Lv, Xiao-Qing</creator><creator>Xu, Ling</creator><creator>Lin, Peng-Fei</creator><creator>Yan, Chuan-Zhu</creator><general>Springer International Publishing</general><general>Springer Nature B.V</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>K9-</scope><scope>K9.</scope><scope>M0R</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20220701</creationdate><title>Clinical, genetic, and pathological characterization of GNE myopathy in China</title><author>Lv, Xiao-Qing ; Xu, Ling ; Lin, Peng-Fei ; Yan, Chuan-Zhu</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c375t-bfcefc6fa2a539fd3430cbf64b3f11eef44c217bb2471198b48f1aeaad432923</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Cell adhesion molecules</topic><topic>Epimerase</topic><topic>Genotypes</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Muscles</topic><topic>Mutation</topic><topic>Myopathy</topic><topic>Neural cell adhesion molecule</topic><topic>Neurology</topic><topic>Neuroradiology</topic><topic>Neurosciences</topic><topic>Neurosurgery</topic><topic>Original Article</topic><topic>Patients</topic><topic>Phenotypes</topic><topic>Psychiatry</topic><topic>Quadriceps muscle</topic><topic>Skeletal muscle</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lv, Xiao-Qing</creatorcontrib><creatorcontrib>Xu, Ling</creatorcontrib><creatorcontrib>Lin, Peng-Fei</creatorcontrib><creatorcontrib>Yan, Chuan-Zhu</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Consumer Health Database (Alumni Edition)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Consumer Health Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest Psychology</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Neurological sciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Lv, Xiao-Qing</au><au>Xu, Ling</au><au>Lin, Peng-Fei</au><au>Yan, Chuan-Zhu</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical, genetic, and pathological characterization of GNE myopathy in China</atitle><jtitle>Neurological sciences</jtitle><stitle>Neurol Sci</stitle><addtitle>Neurol Sci</addtitle><date>2022-07-01</date><risdate>2022</risdate><volume>43</volume><issue>7</issue><spage>4483</spage><epage>4491</epage><pages>4483-4491</pages><issn>1590-1874</issn><eissn>1590-3478</eissn><abstract>Background
GNE myopathy is the most common distal myopathy in China. We summarized the clinical, genetic, and pathological characteristics of 125 Chinese patients with GNE myopathy.
Methods
We collected clinical data of 21 patients diagnosed at our hospital and 104 patients from previous reports. Clinical, genetic, and pathological characteristics were summarized. According to the location of mutations, patients were classified into groups to analyze genotype–phenotype correlation. We reviewed the pathological features and studied the expressions of neural cell adhesion molecule.
Results
The severity of involvement of lower limb muscles was in the following order: tibialis anterior > biceps femoris > gastrocnemius > iliopsoas > quadriceps femoris. Mutation p.D207V was the most common variant in China. Patients carrying p.D207V tended to show later disease onset. In the epimerase/epimerase group, men had earlier disease onset than women (
p
< 0.05). In other groups, age at disease onset in females was earlier than that in males. Protein analysis showed decreased sialylation of NCAM and upregulation of LC3 in patients with different mutations.
Conclusions
Mutation p.D207V is the most common GNE variant in China. Involvement of flexor muscles in lower limbs was more obvious than extensor muscles. NCAM expression in patients with various mutations may be a useful diagnostic biomarker in GNE myopathy.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>35138478</pmid><doi>10.1007/s10072-022-05938-8</doi><tpages>9</tpages></addata></record> |
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| subjects | Cell adhesion molecules Epimerase Genotypes Medicine Medicine & Public Health Muscles Mutation Myopathy Neural cell adhesion molecule Neurology Neuroradiology Neurosciences Neurosurgery Original Article Patients Phenotypes Psychiatry Quadriceps muscle Skeletal muscle |
| title | Clinical, genetic, and pathological characterization of GNE myopathy in China |
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