Publication details

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

Authors

VONDRÁČEK Petr HERMANOVÁ Markéta SEDLÁČKOVÁ Jana FAJKUSOVÁ Lenka STARÝ David MICHENKOVÁ A. GAILLYOVÁ Renata SEEMAN Pavel MAZANEC Radim

Year of publication 2007
Type Article in Periodical
Magazine / Source European Journal of Neurology
MU Faculty or unit

Faculty of Science

Citation
Field Genetics and molecular biology
Keywords Charcot-Marie Tooth neuropathy; Duchenne muscular dystrophy
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.
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