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rdf:type
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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)
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Title
| - Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy
- Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy (en)
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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)
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skos:notation
| - RIV/00216224:14310/07:00019178!RIV10-MZ0-14310___
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(1A8608), Z(MSM0021622415), Z(MZ000064203), Z(MZ0FNM2005)
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00216224:14310/07:00019178
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - Charcot-Marie Tooth neuropathy; Duchenne muscular dystrophy (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - GB - Spojené království Velké Británie a Severního Irska
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - European Journal of Neurology
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Fajkusová, Lenka
- Gaillyová, Renata
- Hermanová, Markéta
- Sedláčková, Jana
- Starý, David
- Seeman, Pavel
- Vondráček, Petr
- Mazanec, Radim
- Michenková, A.
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http://linked.open...ain/vavai/riv/wos
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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http://localhost/t...ganizacniJednotka
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