VONDRÁČEK, Petr, Markéta HERMANOVÁ, Jana SEDLÁČKOVÁ, Lenka FAJKUSOVÁ, David STARÝ, A. MICHENKOVÁ, Renata GAILLYOVÁ, Pavel SEEMAN and Radim MAZANEC. Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy. European Journal of Neurology. Oxon: BLACKWELL PUBLISHING, 2007, vol. 14, No 10, p. 1182-1185. ISSN 1351-5101.
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Basic information
Original name Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy
Name in Czech Charcot-Marie-Tooth neuropatie typu 1A v kombinaci s Duchennovou svalovou dystrofií
Authors VONDRÁČEK, Petr (203 Czech Republic), Markéta HERMANOVÁ (203 Czech Republic), Jana SEDLÁČKOVÁ (203 Czech Republic), Lenka FAJKUSOVÁ (203 Czech Republic, guarantor), David STARÝ (203 Czech Republic), A. MICHENKOVÁ (203 Czech Republic), Renata GAILLYOVÁ (203 Czech Republic), Pavel SEEMAN (203 Czech Republic) and Radim MAZANEC (203 Czech Republic).
Edition European Journal of Neurology, Oxon, BLACKWELL PUBLISHING, 2007, 1351-5101.
Other information
Original language English
Type of outcome Article in a journal
Field of Study Genetics and molecular biology
Country of publisher United Kingdom of Great Britain and Northern Ireland
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 2.580
RIV identification code RIV/00216224:14310/07:00019178
Organization unit Faculty of Science
UT WoS 000249660900027
Keywords in English Charcot-Marie Tooth neuropathy; Duchenne muscular dystrophy
Tags Charcot-Marie Tooth neuropathy, Duchenne muscular dystrophy
Tags International impact, Reviewed
Changed by Changed by: prof. RNDr. Jiří Fajkus, CSc., učo 28574. Changed: 30/6/2009 13:49.
Abstract
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.
Abstract (in Czech)
Popsali jsme 24 letého muže, který měl neobvyklou kombinaci dvou dědičných nervosvalových poruch: CMT1A a DMD. Fenotyp tohoto pacienta zahrnoval příznaky obou těchto chorob a byly detekovány dvě nezávislé mutace. Spojení těchto dvou onemocnění nebylo dosud popsáno.
Links
MSM0021622415, plan (intention)Name: Molekulární podstata buněčných a tkáňových regulací
Investor: Ministry of Education, Youth and Sports of the CR, Molecular basis of cell and tissue regulations
1A8608, research and development projectName: Molekulární aspekty diagnostiky a terapie spinální svalové atrofie
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