VONDRÁČEK, Petr, Markéta HERMANOVÁ, Jana SEDLÁČKOVÁ, Lenka FAJKUSOVÁ, David STARÝ, A. MICHENKOVÁ, Renata GAILLYOVÁ, Pavel SEEMAN a Radim MAZANEC. Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy. European Journal of Neurology. Oxon: BLACKWELL PUBLISHING, 2007, roč. 14, č. 10, s. 1182-1185. ISSN 1351-5101. |
Další formáty:
BibTeX
LaTeX
RIS
@article{750324, author = {Vondráček, Petr and Hermanová, Markéta and Sedláčková, Jana and Fajkusová, Lenka and Starý, David and Michenková, A. and Gaillyová, Renata and Seeman, Pavel and Mazanec, Radim}, article_location = {Oxon}, article_number = {10}, keywords = {Charcot-Marie Tooth neuropathy; Duchenne muscular dystrophy}, language = {eng}, issn = {1351-5101}, journal = {European Journal of Neurology}, title = {Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy}, volume = {14}, year = {2007} }
TY - JOUR ID - 750324 AU - Vondráček, Petr - Hermanová, Markéta - Sedláčková, Jana - Fajkusová, Lenka - Starý, David - Michenková, A. - Gaillyová, Renata - Seeman, Pavel - Mazanec, Radim PY - 2007 TI - Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy JF - European Journal of Neurology VL - 14 IS - 10 SP - 1182 EP - 1182 PB - BLACKWELL PUBLISHING SN - 13515101 KW - Charcot-Marie Tooth neuropathy KW - Duchenne muscular dystrophy N2 - 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. ER -
VONDRÁČEK, Petr, Markéta HERMANOVÁ, Jana SEDLÁČKOVÁ, Lenka FAJKUSOVÁ, David STARÝ, A. MICHENKOVÁ, Renata GAILLYOVÁ, Pavel SEEMAN a Radim MAZANEC. Charcot-Marie-Tooth neuropathy type 1A combined with Duchenne muscular dystrophy. \textit{European Journal of Neurology}. Oxon: BLACKWELL PUBLISHING, 2007, roč.~14, č.~10, s.~1182-1185. ISSN~1351-5101.
|