Clinical and histologic findings in ACTA1-related nemaline myopathy: case series and review of the literature
CAM Moreno, OA Neto, S Donkervoort, Y Hu… - Pediatric …, 2017 - Elsevier
Background Nemaline myopathy is a rare congenital disease of skeletal muscle
characterized by muscle weakness and hypotonia, as well as the diagnostic presence of …
characterized by muscle weakness and hypotonia, as well as the diagnostic presence of …
[HTML][HTML] KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination
A Ramirez-Martinez, BK Cenik, S Bezprozvannaya… - Elife, 2017 - elifesciences.org
Maintenance of muscle function requires assembly of contractile proteins into highly
organized sarcomeres. Mutations in Kelch-like protein 41 (KLHL41) cause nemaline …
organized sarcomeres. Mutations in Kelch-like protein 41 (KLHL41) cause nemaline …
Beyond mice: Emerging and transdisciplinary models for the study of early-onset myopathies
K Jagla, B Kalman, T Boudou, S Hénon… - Seminars in Cell & …, 2017 - Elsevier
The use of the adapted models to decipher patho-physiological mechanisms of human
diseases is always a great challenge. This is of particular importance for early-onset …
diseases is always a great challenge. This is of particular importance for early-onset …
Autosomal dominant distal myopathy due to a novel ACTA1 mutation
T Liewluck, EJ Sorenson, MA Walkiewicz… - Neuromuscular …, 2017 - Elsevier
Mutations in skeletal muscle α-actin 1-encoding gene (ACTA1) cause autosomal dominant
or recessive myopathies with marked clinical and pathological heterogeneity. Patients …
or recessive myopathies with marked clinical and pathological heterogeneity. Patients …