TY  -  
T1  - Pathogenetic mechanisms and genotype phenotype correlations in nemaline myopathies and related disorders caused by mutations in tropomyosin genes and nebulin 
SN  -  /  
UR  - URN:ISBN:978-951-51-0288-1; http://hdl.handle.net/10138/136363 
T3  -  
A1  - Marttila, Minttu 
A2  -  
PB  - Helsingin yliopisto 
Y1  - 2014 
LA  - eng 
AB  - We collected all mutations in TPM2 and TPM3 genes hitherto found to cause congenital myopathies, to perform genotype-phenotype correlations, and to increase our understanding of the pathogenetic mechanisms of congenital myopathies caused by mutations in the tropomyosin and nebulin genes. Nemaline myopathy (NM), a rare, genetic muscle disorder defined on the basis of muscle dysfunction and the presence of structural abnormalities in the muscle fibres (i.e. nemaline bodies), is caused by mutations... 
VO  -  
IS  -  
SP  -  
OP  -  
KW  - lääketieteellinen genetiikka 
N1  -   
PP  -  
ER  -