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Pregled bibliografske jedinice broj: 409775

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


Barišić, N; von Au, Katja; Radoš, Marko; Pažanin, Leo; Galić, Slobodan; Cvitković, Miran; Novak, Milivoj, Lochmüller, 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 IGHMBP2 gene // European Journal of Paediatric Neurology
Kusadasi, Turska: Elsevier, 2007. str. 72-72 (poster, međunarodna recenzija, sažetak, znanstveni)


CROSBI ID: 409775 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 IGHMBP2 gene

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

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

Izvornik
European Journal of Paediatric Neurology / - : Elsevier, 2007, 72-72

Skup
The Seventh European Paediatric Neurology Society (EPNS) Congress

Mjesto i datum
Kusadasi, Turska, 19.-22.09.2007

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
SMARD; CNS myelination

Sažetak
We present a boy at the age of 4 months with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Oligohydramnion was registered during pregnancy. Mild hypotonia, weak cry and calcaneovalgus foot deformity were present at birth. He manifested mild delay in psychomotor development and convulsions. On exam he presented with myopathic face, respiratory difficulties, generalized hypotonia, weak cry, opistotonic posture, absent distal tendon reflexes and reduced spontaneous movements. Electromyoneurography showed severe neurogenic lesion more pronounced distally, absent compound evoked potentials on peroneal nerves, decreased nerve conduction on upper extremities and prolonged distal latencies. Muscle biopsy showed neurogenic atrophy, while sural nerve biopsy was normal. Brain MR scans showed delayedmyelination of white matter. Genetic analysis by sequencing the gene encoding immunoglobulin m-binding protein (IGHMBP2 ; chromosome 11q13.2-q13.4) 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. Patient developed respiratory insufficiency 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 mutation R581S in IGHMBP2 gene.

Izvorni jezik
Engleski



POVEZANOST RADA


Projekti:
108-1081870-1886 - Uloga subkortikalnih struktura u epileptogenezi u razvojnoj dobi (Barišić, Nina, MZOS ) ( POIROT)

Ustanove:
Medicinski fakultet, Zagreb

Profili:

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, N; von Au, Katja; Radoš, Marko; Pažanin, Leo; Galić, Slobodan; Cvitković, Miran; Novak, Milivoj, Lochmüller, 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 IGHMBP2 gene // European Journal of Paediatric Neurology
Kusadasi, Turska: Elsevier, 2007. str. 72-72 (poster, međunarodna recenzija, sažetak, znanstveni)
Barišić, N., von Au, K., Radoš, M., Pažanin, L., Galić, S., Cvitković, M., Novak, Milivoj, Lochmüller, Hanns, Sperling, K. & Lehman, Ivan, Varon R (2007) Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in IGHMBP2 gene. U: European Journal of Paediatric Neurology.
@article{article, author = {Bari\v{s}i\'{c}, N and von Au, Katja and Rado\v{s}, Marko and Pa\v{z}anin, Leo and Gali\'{c}, Slobodan and Cvitkovi\'{c}, Miran and Sperling, K}, year = {2007}, pages = {72-72}, keywords = {SMARD, CNS myelination}, title = {Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in IGHMBP2 gene}, keyword = {SMARD, CNS myelination}, publisher = {Elsevier}, publisherplace = {Kusadasi, Turska} }
@article{article, author = {Bari\v{s}i\'{c}, N and von Au, Katja and Rado\v{s}, Marko and Pa\v{z}anin, Leo and Gali\'{c}, Slobodan and Cvitkovi\'{c}, Miran and Sperling, K}, year = {2007}, pages = {72-72}, keywords = {SMARD, CNS myelination}, title = {Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in IGHMBP2 gene}, keyword = {SMARD, CNS myelination}, publisher = {Elsevier}, publisherplace = {Kusadasi, Turska} }

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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