Founder Mutation c.1516A>C in KLHL40 Is a Frequent Cause of Nemaline Myopathy With Hyponatremia in Ethnic Chinese
HCH Lee, S Wong, FYK Leung, LC Ho… - … of Neuropathology & …, 2019 - academic.oup.com
KLHL40-related nemaline myopathy is a severe autosomal recessive muscle disorder. The
current study describes 4 cases of KLHL40-related nemaline myopathy in Hong Kong ethnic …
current study describes 4 cases of KLHL40-related nemaline myopathy in Hong Kong ethnic …
Cofilin loss in Drosophila contributes to myopathy through defective sarcomerogenesis and aggregate formation during muscle growth
M Balakrishnan, SF Yu, SM Chin, DB Soffar… - bioRxiv, 2019 - biorxiv.org
Sarcomeres, the fundamental contractile units of muscles, are conserved structures
composed of actin thin filaments and myosin thick filaments. How sarcomeres are formed …
composed of actin thin filaments and myosin thick filaments. How sarcomeres are formed …
[PDF][PDF] Functional and molecular skeletal muscle adaptations to a calcium sensitizer in transgenic mouse models of Nemaline Myopathy: a potential therapeutic …
E Minardi - 2019 - iris.unipv.it
Nemaline Myopathy is, although a rare genetic disease (1: 50000), the most common
among congenital myopathies (Romero et al., 2013) and no cure, excepts for symptomatic …
among congenital myopathies (Romero et al., 2013) and no cure, excepts for symptomatic …