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Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene (CROSBI ID 524976)

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Barišić, Nina ; von Au, Katja ; Radoš, Marko ; Pažanin, Leo ; Galić, Slobodan ; Cvitković, Miran ; Novak, Milivoj ; Lochmueller, Hanns ; Sperling, K. ; Lehman, Ivan et al. Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1) associated with delayed CNS myelination and novel mutation in the IGHMBP2 gene // Neuromuscular disorders. 2006. str. 653-x

Podaci o odgovornosti

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

engleski

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

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

SMARD1; respiratory distress; IGHMBP2; CNS myelination

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Podaci o prilogu

653-x.

2006.

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objavljeno

Podaci o matičnoj publikaciji

Neuromuscular disorders

Elsevier

0960-8966

Podaci o skupu

11th International Congress of the World Muscle Society

poster

04.10.2006-07.10.2006

Brugge, Belgija

Povezanost rada

nije evidentirano

Indeksiranost