TY  -  
T1  - Nemaline myopathies: a current view 
SN  -  /  
UR  - http://hdl.handle.net/10138/324648 
T3  -  
A1  - Sewry, Caroline A.; Laitila, Jenni M.; Wallgren-Pettersson, Carina 
A2  -  
PB  -  
Y1  - 2019 
LA  - eng 
AB  - Nemaline myopathies are a heterogenous group of congenital myopathies caused by de novo, dominantly or recessively inherited mutations in at least twelve genes. The genes encoding skeletal α-actin (ACTA1) and nebulin (NEB) are the commonest genetic cause. Most patients have congenital onset characterized by muscle weakness and hypotonia, but the spectrum of clinical phenotypes is broad, ranging from severe neonatal presentations to onset of a milder disorder in childhood. Most patients with adul... 
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KW  - 3111 Biomedicine; Nemaline myopathy; Congenital myopathy; Rods; Rod bodies; Z line; Z disc; Animal models; GENOTYPE-PHENOTYPE CORRELATIONS; SKELETAL-MUSCLE; MOUSE MODEL; HYPERTROPHIC CARDIOMYOPATHY; INTRANUCLEAR RODS; FOUNDER MUTATION; BODY MYOPATHY; MICE LACKING; NEBULIN GENE; EXON 55; 1182 Biochemistry, cell and molecular biology 
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ER  -