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Pregled bibliografske jedinice broj: 283042

Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene


Barišić, Nina; von Au, Katja; Radoš, Marko; Pažanin, Leo; Galić, Slobodan; Cvitković, Miran; Novak, Milivoj; Lochmueller, Hanns; Sperling, K.; Lehman, Ivan; Varon, R.
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene // Neuromuscular Disorders
Bruges, Belgium: Elsevier, 2006. (poster, međunarodna recenzija, sažetak, znanstveni)


CROSBI ID: 283042 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene

Autori
Barišić, Nina ; von Au, Katja ; Radoš, Marko ; Pažanin, Leo ; Galić, Slobodan ; Cvitković, Miran ; Novak, Milivoj ; Lochmueller, Hanns ; Sperling, K. ; Lehman, Ivan ; Varon, R.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Neuromuscular Disorders / - : Elsevier, 2006

Skup
11th International Congress of the World Muscle Society

Mjesto i datum
Bruges, Belgium, 04-07.10.2006

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
SMARD1; respiratory distress; IGHMBP2; CNS myelination

Sažetak
We present a boy at the age of 4 months with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Oligohydroamnion was registered during pregnancy. Mild hypotonia, weak cry and calcaneovalgus foot deformity was present at birth. Subsequently he manifested mild delay in psychomotor development and convulsions. On exam he presented with myopathic face, respiratory difficulties, generalized hypotonia, weak pursuit, opistotonic posture, absent distal tendon reflexes, and reduced spontaneous movements more on distal parts of the extremities. Electromyoneurography showed severe neurogenic lesion more pronounced distally, absent compound muscle evoked potentials on peroneal nerves, decreased nerve conduction on upper extremities and prolonged distal latencies. EEG was normal. Muscle biopsy showed neurogenic atrophy, while sural nerve biopsy was normal. Brain MR scans showed delayed myelination of white matter. We performed a genetic analysis by sequencing the gene encoding immunoglobulin μ binding protein (IGHMBP2 ; chromosome 11q13.2-q13.4) and found the previously reported stop codon mutation 388C/T (R130X) in exon 3 and a novel point mutation 1743A/C (R581S) in exon 12 of IGHMBP2. Polymorphism has been excluded by analysing of 170 control chromosomes. Patient developed respiratory insuficiency at the age of 4 months and was artificially ventilated until he died at the age of 6 months. Delayed CNS maturation might occur in SMARD1 patient associated with novel point mutation R58S in IGHMBP2 gene

Izvorni jezik
Engleski



POVEZANOST RADA


Projekti:
0214213

Ustanove:
Klinički bolnički centar Zagreb

Profili:

Avatar Url Nina Barišić (autor)

Avatar Url Marko Radoš (autor)

Avatar Url Ivan Lehman (autor)

Avatar Url Leo Pažanin (autor)

Avatar Url Miran Cvitković (autor)

Avatar Url Slobodan Galić (autor)


Citiraj ovu publikaciju:

Barišić, Nina; von Au, Katja; Radoš, Marko; Pažanin, Leo; Galić, Slobodan; Cvitković, Miran; Novak, Milivoj; Lochmueller, Hanns; Sperling, K.; Lehman, Ivan; Varon, R.
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene // Neuromuscular Disorders
Bruges, Belgium: Elsevier, 2006. (poster, međunarodna recenzija, sažetak, znanstveni)
Barišić, N., von Au, K., Radoš, M., Pažanin, L., Galić, S., Cvitković, M., Novak, M., Lochmueller, H., Sperling, K., Lehman, I. & Varon, R. (2006) Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene. U: Neuromuscular Disorders.
@article{article, author = {Bari\v{s}i\'{c}, Nina and von Au, Katja and Rado\v{s}, Marko and Pa\v{z}anin, Leo and Gali\'{c}, Slobodan and Cvitkovi\'{c}, Miran and Novak, Milivoj and Lochmueller, Hanns and Sperling, K. and Lehman, Ivan and Varon, R.}, year = {2006}, pages = {653}, keywords = {SMARD1, respiratory distress, IGHMBP2, CNS myelination}, title = {Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene}, keyword = {SMARD1, respiratory distress, IGHMBP2, CNS myelination}, publisher = {Elsevier}, publisherplace = {Bruges, Belgium} }
@article{article, author = {Bari\v{s}i\'{c}, Nina and von Au, Katja and Rado\v{s}, Marko and Pa\v{z}anin, Leo and Gali\'{c}, Slobodan and Cvitkovi\'{c}, Miran and Novak, Milivoj and Lochmueller, Hanns and Sperling, K. and Lehman, Ivan and Varon, R.}, year = {2006}, pages = {653}, keywords = {SMARD1, respiratory distress, IGHMBP2, CNS myelination}, title = {Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene}, keyword = {SMARD1, respiratory distress, IGHMBP2, CNS myelination}, publisher = {Elsevier}, publisherplace = {Bruges, Belgium} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE





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