TY  -  
T1  - Identification of disease causing mutations in early-onset neuropathies by exome sequencing 
SN  -  /  
UR  - URN:NBN:fi:hulib-201507282463; http://hdl.handle.net/10138/41115 
T3  -  
A1  - Pöyhönen, Rosanna 
A2  -  
PB  - Helsingfors universitet 
Y1  - 2013 
LA  - eng 
AB  - Charcot-Marie-Tooth (CMT) neuropathy is one of the most common forms of inherited peripheral neuropathies with the prevalence of one in 2500 individuals. CMT is phenotypically and genetically a very heterogeneous disease. It can be inherited as an autosomal recessive, dominant or X-linked trait. CMT is characterized by distal muscle weakness, atrophy and deformity of the feet as well as clumsiness of gait. The onset of CMT varies and also the symptoms of the disease can vary even among the membe... 
VO  -  
IS  -  
SP  -  
OP  -  
KW  - Neurology; Neurologia; Neurologi 
N1  -   
PP  -  
ER  -