Matches in SemOpenAlex for { <https://semopenalex.org/work/W2755160830> ?p ?o ?g. }
Showing items 1 to 71 of
71
with 100 items per page.
- W2755160830 endingPage "S147" @default.
- W2755160830 startingPage "S147" @default.
- W2755160830 abstract "Charcot-Marie-Tooth type 4 (CMT4) is a severe form of recessive neuropathy with genetic heterogeneity. To date 11 different genes are detected of this rare autosomal recessive disorder. One form of this disease is caused by a mutation of the myotubularin-related 2 (MTMR2) gene. It is characterized by severe early childhood-onset demyelinating sensorimotor polyneuropathy, deformation of extremities and speech impairment up to vocal cord paresis. In the following we report the clinical course and electrophysiological findings of three pediatric sibling cases with a novel mutation in MTMR2. All of our patients first noticed quick fatigue after the first three years of life. As the disease progressed, they all developed muscle atrophy, facial weakness, pes cavus deformity and global developmental delay at the end of the first decade. Their deep tendon reflexes were absent. Sensory nerve action potentials and nerve conduction velocity were undetectable in all of them. Compound muscle action potential and motor conduction velocity were not recordable in two patients and were severely decreased in one patient. One of the patients was even confined to wheelchair. Molecular analysis with whole exome sequencing (WES) of the MTMR2 gene revealed a novel homozygous mutation in all siblings: c.1490insC; p.F498Ifs*2. In conclusion, the heterogeneous genetic spectrum of CMT4B1 has been expanded by a new mutation described before. Further studies are needed to improve the understanding of the pathomechanism behind the loss of myelin in the peripheral nervous system in order to establish new treatments." @default.
- W2755160830 created "2017-09-25" @default.
- W2755160830 creator A5025842975 @default.
- W2755160830 creator A5039753396 @default.
- W2755160830 creator A5054781009 @default.
- W2755160830 creator A5055902226 @default.
- W2755160830 creator A5084672104 @default.
- W2755160830 creator A5086266199 @default.
- W2755160830 date "2017-10-01" @default.
- W2755160830 modified "2023-09-26" @default.
- W2755160830 title "Severe form of recessive Charcot-Marie-Tooth disease with a novel mutation in myotubularin related protein 2" @default.
- W2755160830 doi "https://doi.org/10.1016/j.nmd.2017.06.197" @default.
- W2755160830 hasPublicationYear "2017" @default.
- W2755160830 type Work @default.
- W2755160830 sameAs 2755160830 @default.
- W2755160830 citedByCount "0" @default.
- W2755160830 crossrefType "journal-article" @default.
- W2755160830 hasAuthorship W2755160830A5025842975 @default.
- W2755160830 hasAuthorship W2755160830A5039753396 @default.
- W2755160830 hasAuthorship W2755160830A5054781009 @default.
- W2755160830 hasAuthorship W2755160830A5055902226 @default.
- W2755160830 hasAuthorship W2755160830A5084672104 @default.
- W2755160830 hasAuthorship W2755160830A5086266199 @default.
- W2755160830 hasConcept C104317684 @default.
- W2755160830 hasConcept C105702510 @default.
- W2755160830 hasConcept C126322002 @default.
- W2755160830 hasConcept C127716648 @default.
- W2755160830 hasConcept C141071460 @default.
- W2755160830 hasConcept C179253579 @default.
- W2755160830 hasConcept C2778117643 @default.
- W2755160830 hasConcept C2778879792 @default.
- W2755160830 hasConcept C501734568 @default.
- W2755160830 hasConcept C54355233 @default.
- W2755160830 hasConcept C64618202 @default.
- W2755160830 hasConcept C71924100 @default.
- W2755160830 hasConcept C81182388 @default.
- W2755160830 hasConcept C86803240 @default.
- W2755160830 hasConceptScore W2755160830C104317684 @default.
- W2755160830 hasConceptScore W2755160830C105702510 @default.
- W2755160830 hasConceptScore W2755160830C126322002 @default.
- W2755160830 hasConceptScore W2755160830C127716648 @default.
- W2755160830 hasConceptScore W2755160830C141071460 @default.
- W2755160830 hasConceptScore W2755160830C179253579 @default.
- W2755160830 hasConceptScore W2755160830C2778117643 @default.
- W2755160830 hasConceptScore W2755160830C2778879792 @default.
- W2755160830 hasConceptScore W2755160830C501734568 @default.
- W2755160830 hasConceptScore W2755160830C54355233 @default.
- W2755160830 hasConceptScore W2755160830C64618202 @default.
- W2755160830 hasConceptScore W2755160830C71924100 @default.
- W2755160830 hasConceptScore W2755160830C81182388 @default.
- W2755160830 hasConceptScore W2755160830C86803240 @default.
- W2755160830 hasLocation W27551608301 @default.
- W2755160830 hasOpenAccess W2755160830 @default.
- W2755160830 hasPrimaryLocation W27551608301 @default.
- W2755160830 hasRelatedWork W2001499728 @default.
- W2755160830 hasRelatedWork W2016068087 @default.
- W2755160830 hasRelatedWork W2031846255 @default.
- W2755160830 hasRelatedWork W2036316800 @default.
- W2755160830 hasRelatedWork W2039688496 @default.
- W2755160830 hasRelatedWork W2043047030 @default.
- W2755160830 hasRelatedWork W2068062821 @default.
- W2755160830 hasRelatedWork W2125128349 @default.
- W2755160830 hasRelatedWork W2413904091 @default.
- W2755160830 hasRelatedWork W2756009492 @default.
- W2755160830 hasVolume "27" @default.
- W2755160830 isParatext "false" @default.
- W2755160830 isRetracted "false" @default.
- W2755160830 magId "2755160830" @default.
- W2755160830 workType "article" @default.