Matches in SemOpenAlex for { <https://semopenalex.org/work/W2014722014> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2014722014 endingPage "49" @default.
- W2014722014 startingPage "48" @default.
- W2014722014 abstract "Congenital hypomyelination neuropathy (CHN) has been related with mutations of the MPZ gene that codes for P0, the major structural protein of the peripheral myelin and of EGR2/Krox20 gene that codes for a transcription factor essential for the normal development of myelinating Schwann cell. More recently, we reported the association between CHN and a Ser72Leu mutation of the peripheral myelin protein 22 (PMP22), a quantitatively minor component of the compact myelin of peripheral nerves, whose functions are still debated. Here we describe a second patient with CHN associated with a novel mutation of PMP22. The patient is the 4‐year‐old daughter of healthy nonconsanguineous parents and is affected with early delay of motor development. At seven years she could not walk without support; examination disclosed muscle weakness and atrophy, foot drop, pes cavus, scoliosis, areflexia, and impairment of all sensory modalities. MNCV at the median nerve was 3.6 m/s. Nerve biopsy disclosed marked loss of fibers; residual fibers were devoid of myelin or encircled by extremely thin myelin sheaths and were surrounded by basal laminae onion bulbs. Clinical follow up demonstrated no progression of the disease. Molecular analysis disclosed a novel heterozygous T‐to‐C transition at nucleotide 374 of PMP22, that is predicted to cause a nonconservative substitution of cysteine109 (a phylogenetically conserved residue) with arginine, in the third transmembrane domain. The duplication of PMP22 causes the common demyelinating form of Charcot‐Marie‐Tooth neuropathy type 1 (CMT1). Our reports indicate that missense mutations of the same protein may cause dysmyelination rather than demyelination, and prompt to investigate the function of PMP22 in myelinogenesis as well as in Schwann cell differentiation." @default.
- W2014722014 created "2016-06-24" @default.
- W2014722014 creator A5001920550 @default.
- W2014722014 creator A5004636023 @default.
- W2014722014 creator A5006323539 @default.
- W2014722014 creator A5017078229 @default.
- W2014722014 creator A5041228004 @default.
- W2014722014 creator A5046177542 @default.
- W2014722014 creator A5057223091 @default.
- W2014722014 creator A5072313820 @default.
- W2014722014 date "2000-03-01" @default.
- W2014722014 modified "2023-09-27" @default.
- W2014722014 title "CONGENITAL HYPOMYELINATION NEUROPATHY WITH A NOVEL MUTATION OF PMP22" @default.
- W2014722014 doi "https://doi.org/10.1046/j.1529-8027.2000.00513-51.x" @default.
- W2014722014 hasPublicationYear "2000" @default.
- W2014722014 type Work @default.
- W2014722014 sameAs 2014722014 @default.
- W2014722014 citedByCount "0" @default.
- W2014722014 crossrefType "journal-article" @default.
- W2014722014 hasAuthorship W2014722014A5001920550 @default.
- W2014722014 hasAuthorship W2014722014A5004636023 @default.
- W2014722014 hasAuthorship W2014722014A5006323539 @default.
- W2014722014 hasAuthorship W2014722014A5017078229 @default.
- W2014722014 hasAuthorship W2014722014A5041228004 @default.
- W2014722014 hasAuthorship W2014722014A5046177542 @default.
- W2014722014 hasAuthorship W2014722014A5057223091 @default.
- W2014722014 hasAuthorship W2014722014A5072313820 @default.
- W2014722014 hasConcept C104317684 @default.
- W2014722014 hasConcept C105702510 @default.
- W2014722014 hasConcept C126322002 @default.
- W2014722014 hasConcept C134018914 @default.
- W2014722014 hasConcept C142724271 @default.
- W2014722014 hasConcept C169760540 @default.
- W2014722014 hasConcept C178790620 @default.
- W2014722014 hasConcept C185592680 @default.
- W2014722014 hasConcept C2777037019 @default.
- W2014722014 hasConcept C2777589315 @default.
- W2014722014 hasConcept C2778117643 @default.
- W2014722014 hasConcept C2778609137 @default.
- W2014722014 hasConcept C2779901536 @default.
- W2014722014 hasConcept C2781006897 @default.
- W2014722014 hasConcept C501734568 @default.
- W2014722014 hasConcept C50952357 @default.
- W2014722014 hasConcept C529278444 @default.
- W2014722014 hasConcept C537181965 @default.
- W2014722014 hasConcept C54355233 @default.
- W2014722014 hasConcept C555293320 @default.
- W2014722014 hasConcept C71924100 @default.
- W2014722014 hasConcept C75563809 @default.
- W2014722014 hasConcept C7602840 @default.
- W2014722014 hasConcept C81182388 @default.
- W2014722014 hasConcept C86803240 @default.
- W2014722014 hasConceptScore W2014722014C104317684 @default.
- W2014722014 hasConceptScore W2014722014C105702510 @default.
- W2014722014 hasConceptScore W2014722014C126322002 @default.
- W2014722014 hasConceptScore W2014722014C134018914 @default.
- W2014722014 hasConceptScore W2014722014C142724271 @default.
- W2014722014 hasConceptScore W2014722014C169760540 @default.
- W2014722014 hasConceptScore W2014722014C178790620 @default.
- W2014722014 hasConceptScore W2014722014C185592680 @default.
- W2014722014 hasConceptScore W2014722014C2777037019 @default.
- W2014722014 hasConceptScore W2014722014C2777589315 @default.
- W2014722014 hasConceptScore W2014722014C2778117643 @default.
- W2014722014 hasConceptScore W2014722014C2778609137 @default.
- W2014722014 hasConceptScore W2014722014C2779901536 @default.
- W2014722014 hasConceptScore W2014722014C2781006897 @default.
- W2014722014 hasConceptScore W2014722014C501734568 @default.
- W2014722014 hasConceptScore W2014722014C50952357 @default.
- W2014722014 hasConceptScore W2014722014C529278444 @default.
- W2014722014 hasConceptScore W2014722014C537181965 @default.
- W2014722014 hasConceptScore W2014722014C54355233 @default.
- W2014722014 hasConceptScore W2014722014C555293320 @default.
- W2014722014 hasConceptScore W2014722014C71924100 @default.
- W2014722014 hasConceptScore W2014722014C75563809 @default.
- W2014722014 hasConceptScore W2014722014C7602840 @default.
- W2014722014 hasConceptScore W2014722014C81182388 @default.
- W2014722014 hasConceptScore W2014722014C86803240 @default.
- W2014722014 hasIssue "1" @default.
- W2014722014 hasLocation W20147220141 @default.
- W2014722014 hasOpenAccess W2014722014 @default.
- W2014722014 hasPrimaryLocation W20147220141 @default.
- W2014722014 hasRelatedWork W175367147 @default.
- W2014722014 hasRelatedWork W2009739954 @default.
- W2014722014 hasRelatedWork W2042152116 @default.
- W2014722014 hasRelatedWork W2057578597 @default.
- W2014722014 hasRelatedWork W2077183758 @default.
- W2014722014 hasRelatedWork W2080244997 @default.
- W2014722014 hasRelatedWork W2087265881 @default.
- W2014722014 hasRelatedWork W2362650105 @default.
- W2014722014 hasRelatedWork W2462474794 @default.
- W2014722014 hasRelatedWork W3024306633 @default.
- W2014722014 hasVolume "5" @default.
- W2014722014 isParatext "false" @default.
- W2014722014 isRetracted "false" @default.
- W2014722014 magId "2014722014" @default.
- W2014722014 workType "article" @default.