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Statements

Subject Item
n2:RIV%2F00216224%3A14310%2F07%3A00019178%21RIV10-MZ0-14310___
rdf:type
skos:Concept n18:Vysledek
dcterms:description
We report a 24-year-old male with an unusual combination of two inherited neuromuscular disorders: CMT disease type 1A and DMD. A phenotypic presentation of this patient included features of both these disorders and two independent mutations were detected. The combination of CMT1A and DMD has not been reported as yet. We report a 24-year-old male with an unusual combination of two inherited neuromuscular disorders: CMT disease type 1A and DMD. A phenotypic presentation of this patient included features of both these disorders and two independent mutations were detected. The combination of CMT1A and DMD has not been reported as yet.
dcterms:title
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy
skos:prefLabel
Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy
skos:notation
RIV/00216224:14310/07:00019178!RIV10-MZ0-14310___
n3:aktivita
n11:Z n11:P
n3:aktivity
P(1A8608), Z(MSM0021622415), Z(MZ000064203), Z(MZ0FNM2005)
n3:cisloPeriodika
10
n3:dodaniDat
n7:2010
n3:domaciTvurceVysledku
n13:5523532 n13:8248257 n13:2299690 n13:3196178 n13:4111095 n13:5589797
n3:druhVysledku
n12:J
n3:duvernostUdaju
n6:S
n3:entitaPredkladatele
n16:predkladatel
n3:idSjednocenehoVysledku
413407
n3:idVysledku
RIV/00216224:14310/07:00019178
n3:jazykVysledku
n17:eng
n3:klicovaSlova
Charcot-Marie Tooth neuropathy; Duchenne muscular dystrophy
n3:klicoveSlovo
n10:Duchenne%20muscular%20dystrophy n10:Charcot-Marie%20Tooth%20neuropathy
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[2AC1A381E448]
n3:nazevZdroje
European Journal of Neurology
n3:obor
n14:EB
n3:pocetDomacichTvurcuVysledku
6
n3:pocetTvurcuVysledku
9
n3:projekt
n4:1A8608
n3:rokUplatneniVysledku
n7:2007
n3:svazekPeriodika
14
n3:tvurceVysledku
Seeman, Pavel Gaillyová, Renata Hermanová, Markéta Mazanec, Radim Fajkusová, Lenka Starý, David Michenková, A. Vondráček, Petr Sedláčková, Jana
n3:wos
000249660900027
n3:zamer
n5:MZ0FNM2005 n5:MZ000064203 n5:MSM0021622415
s:issn
1351-5101
s:numberOfPages
4
n19:organizacniJednotka
14310