Matches in SemOpenAlex for { <https://semopenalex.org/work/W2751063501> ?p ?o ?g. }
Showing items 1 to 86 of
86
with 100 items per page.
- W2751063501 endingPage "520" @default.
- W2751063501 startingPage "515" @default.
- W2751063501 abstract "We report a 59-year-old Japanese male who developed gradually worsening weakness and numbness of distal four extremities since age 50. His parents were first cousins, and blood and cerebral spinal examinations were unremarkable. Homozygous mutation of MME gene was detected and thus he was diagnosed as autosomal-recessive Charcot-Marie-Tooth disease 2T (AR-CMT2T); however, electrophysiological examinations revealed scattered demyelinative changes including elongated terminal latency in several peripheral nerve trunks. Sural nerve biopsy showed endoneurial edema and a lot of thinly myelinated nerve fibers with uneven distribution of remnant myelinated fibers within and between fascicles. Immunoglobulin treatment was initiated considering the possibility of superimposed inflammation and demyelination, and immediate clinical as well as electrophysiological improvements were noted. Our findings indicate that AR-CMT2T caused by MME mutation predisposes to a superimposed inflammatory demyelinating neuropathy. This is the first report which documented the co-existence of CMT2 and chronic inflammatory demyelinating polyneuropathy (CIDP); however, in the peripheral nervous system, neprilysin, a product of MME gene, is more abundant in myelin sheath than in axonal component. The fragility of myelin sheath due to mutated neprilysin may trigger the detrimental immune response against peripheral myelin in this patient." @default.
- W2751063501 created "2017-09-15" @default.
- W2751063501 creator A5005464341 @default.
- W2751063501 creator A5007821161 @default.
- W2751063501 creator A5007867102 @default.
- W2751063501 creator A5020656074 @default.
- W2751063501 creator A5030173383 @default.
- W2751063501 creator A5061411120 @default.
- W2751063501 creator A5064695904 @default.
- W2751063501 date "2017-01-01" @default.
- W2751063501 modified "2023-09-27" @default.
- W2751063501 title "Charcot-Marie-Tooth disease type 2 caused by homozygous <i>MME</i> gene mutation superimposed by chronic inflammatory demyelinating polyneuropathy" @default.
- W2751063501 cites W1970968637 @default.
- W2751063501 cites W1993019501 @default.
- W2751063501 cites W2030011352 @default.
- W2751063501 cites W2043531167 @default.
- W2751063501 cites W2063691433 @default.
- W2751063501 cites W2106006874 @default.
- W2751063501 cites W2115134478 @default.
- W2751063501 cites W2117983251 @default.
- W2751063501 cites W2118472978 @default.
- W2751063501 cites W2120063526 @default.
- W2751063501 cites W2140150982 @default.
- W2751063501 cites W2297467343 @default.
- W2751063501 cites W2487037954 @default.
- W2751063501 doi "https://doi.org/10.5692/clinicalneurol.cn-001036" @default.
- W2751063501 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/28855494" @default.
- W2751063501 hasPublicationYear "2017" @default.
- W2751063501 type Work @default.
- W2751063501 sameAs 2751063501 @default.
- W2751063501 citedByCount "3" @default.
- W2751063501 countsByYear W27510635012021 @default.
- W2751063501 countsByYear W27510635012022 @default.
- W2751063501 crossrefType "journal-article" @default.
- W2751063501 hasAuthorship W2751063501A5005464341 @default.
- W2751063501 hasAuthorship W2751063501A5007821161 @default.
- W2751063501 hasAuthorship W2751063501A5007867102 @default.
- W2751063501 hasAuthorship W2751063501A5020656074 @default.
- W2751063501 hasAuthorship W2751063501A5030173383 @default.
- W2751063501 hasAuthorship W2751063501A5061411120 @default.
- W2751063501 hasAuthorship W2751063501A5064695904 @default.
- W2751063501 hasBestOaLocation W27510635011 @default.
- W2751063501 hasConcept C126322002 @default.
- W2751063501 hasConcept C142724271 @default.
- W2751063501 hasConcept C159654299 @default.
- W2751063501 hasConcept C203014093 @default.
- W2751063501 hasConcept C2775892965 @default.
- W2751063501 hasConcept C2778609137 @default.
- W2751063501 hasConcept C2779867792 @default.
- W2751063501 hasConcept C2780923182 @default.
- W2751063501 hasConcept C2781006897 @default.
- W2751063501 hasConcept C529278444 @default.
- W2751063501 hasConcept C71924100 @default.
- W2751063501 hasConceptScore W2751063501C126322002 @default.
- W2751063501 hasConceptScore W2751063501C142724271 @default.
- W2751063501 hasConceptScore W2751063501C159654299 @default.
- W2751063501 hasConceptScore W2751063501C203014093 @default.
- W2751063501 hasConceptScore W2751063501C2775892965 @default.
- W2751063501 hasConceptScore W2751063501C2778609137 @default.
- W2751063501 hasConceptScore W2751063501C2779867792 @default.
- W2751063501 hasConceptScore W2751063501C2780923182 @default.
- W2751063501 hasConceptScore W2751063501C2781006897 @default.
- W2751063501 hasConceptScore W2751063501C529278444 @default.
- W2751063501 hasConceptScore W2751063501C71924100 @default.
- W2751063501 hasIssue "9" @default.
- W2751063501 hasLocation W27510635011 @default.
- W2751063501 hasLocation W27510635012 @default.
- W2751063501 hasOpenAccess W2751063501 @default.
- W2751063501 hasPrimaryLocation W27510635011 @default.
- W2751063501 hasRelatedWork W2019734259 @default.
- W2751063501 hasRelatedWork W2073572484 @default.
- W2751063501 hasRelatedWork W2075270044 @default.
- W2751063501 hasRelatedWork W2075803610 @default.
- W2751063501 hasRelatedWork W2085807408 @default.
- W2751063501 hasRelatedWork W2146891210 @default.
- W2751063501 hasRelatedWork W2166157538 @default.
- W2751063501 hasRelatedWork W2751063501 @default.
- W2751063501 hasRelatedWork W3208417543 @default.
- W2751063501 hasRelatedWork W6858217 @default.
- W2751063501 hasVolume "57" @default.
- W2751063501 isParatext "false" @default.
- W2751063501 isRetracted "false" @default.
- W2751063501 magId "2751063501" @default.
- W2751063501 workType "article" @default.