About: Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

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About: Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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. (en)
Title	Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy (en)
skos:prefLabel	Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy (en)
skos:notation	RIV/00216224:14310/07:00019178!RIV10-MZ0-14310___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(1A8608), Z(MSM0021622415), Z(MZ000064203), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	10
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Gaillyová, Renata Hermanová, Markéta Vondráček, Petr Fajkusová, Lenka Sedláčková, Jana Starý, David
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	413407
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/07:00019178
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Charcot-Marie Tooth neuropathy; Duchenne muscular dystrophy (en)
http://linked.open.../riv/klicoveSlovo	Charcot-Marie Tooth neuropathy Duchenne muscular dystrophy
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[2AC1A381E448]
http://linked.open...i/riv/nazevZdroje	European Journal of Neurology
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	6 (xsd:int)
http://linked.open...cetTvurcuVysledku	9 (xsd:int)
http://linked.open...vavai/riv/projekt	Molecular aspects of diagnostics and therapy of spinal muscular atrophy
http://linked.open...UplatneniVysledku	2007
http://linked.open...v/svazekPeriodika	14
http://linked.open...iv/tvurceVysledku	Fajkusová, Lenka Gaillyová, Renata Hermanová, Markéta Sedláčková, Jana Starý, David Seeman, Pavel Vondráček, Petr Mazanec, Radim Michenková, A.
http://linked.open...ain/vavai/riv/wos	000249660900027
http://linked.open...n/vavai/riv/zamer	Molecular basis of cell and tissue regulations Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje Klinicko-genetická studie poruch prenatálního a postnatálního vývoje k časné prevenci, diagnóze a léčbě těžkých VVV, chorob a nádorů s genetickou dispozicí
issn	1351-5101
number of pages	4 (xsd:int)
http://localhost/t...ganizacniJednotka	14310
is http://linked.open...avai/riv/vysledek of	Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy

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