Results 61 to 70 of about 5,284 (245)
Nemaline myopathy-related skeletal muscle α-actin (ACTA1) mutation, Asp286Gly, prevents proper strong myosin binding and triggers muscle weakness. [PDF]
PLoS ONE, 2012 Many mutations in the skeletal muscle α-actin gene (ACTA1) lead to muscle weakness and nemaline myopathy. Despite increasing clinical and scientific interest, the molecular and cellular pathogenesis of weakness remains unclear.
Julien Ochala +3 more
doaj +1 more source
The dynamics of the β-propeller domain in Kelch protein KLHL40 changes upon nemaline myopathy-associated mutation [PDF]
, 2016 Evolutionarily widespread, functionally and structurally diverse and still largely unexplored, Kelch proteins, characterized by the presence of a conserved C-terminal β-propeller, are implicated in a number of diverse fundamental biological functions ...
BORTOLOTTI, Carlo Augusto +4 more
core +1 more source
OXPHOS complex deficiency in congenital myopathy: A systematic review
European Journal of Clinical Investigation, Volume 55, Issue 11, November 2025.This systematic review assessed oxidative phosphorylation (OXPHOS) complex dysfunction in genetically confirmed congenital myopathies (CM). Among 5841 studies screened, 23 publications, comprising 45 CM cases, met the inclusion criteria. OXPHOS dysfunction was identified in 78% of cases, particularly where enzymology was performed, with RYR1 most ...
Megan J. du Preez +4 more
wiley +1 more source
Stem Cell Research, 2022 Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres.
Isabella S. Suleski +12 more
doaj +1 more source
Reply to: Comments on: Chemotherapy‐based approach is the preferred treatment for sporadic late‐onset nemaline myopathy with a monoclonal protein [PDF]
, 2021 Rouslan Kotchetkov +5 more
openalex +1 more source
Physiological Reports, Volume 13, Issue 21, November 2025.Abstract Cerebral palsy (CP) often presents with increased passive stiffness of the skeletal muscles, primarily due to increased collagen in the extracellular matrix. Collagenase from Clostridium histolyticum (CCH), an enzyme that degrades collagen, is used clinically to treat fibrotic conditions such as Dupuytren's contracture and Peyronie's disease ...
Faizan Syed +5 more
wiley +1 more source
Pediatric Neurology Briefs, 1994 A female neonate with a rapidly fatal course of nemaline myopathy is reported from the University of Siena, Italy.
J Gordon Millichap
doaj +1 more source
The FEBS Journal, Volume 292, Issue 20, Page 5525-5539, October 2025.A loss of function TNNT1 myopathy mouse model with the nonsense mutation p.E180* showed potential cytotoxicity of the truncated slow troponin T fragment. The mRNA expression profile in the soleus muscle of Tnnt1‐p.E180* mice showed very different changes in comparison to that of Tnnt1‐knockout mice.
Han‐Zhong Feng +2 more
wiley +1 more source
Clinical Case Reports, 2021 Monoclonal gammopathy of undetermined significance (MGUS) may be associated with pathologies with severe neuromuscular manifestations such as sporadic late‐onset nemaline myopathy (SLONM).
Tânia Maia +4 more
doaj +1 more source
Nebulette knockout mice have normal cardiac function, but show Z-line widening and up-regulation of cardiac stress markers [PDF]
, 2015 Aims: Nebulette is a 109 kDa modular protein localized in the sarcomeric Z-line of the heart. In vitro studies have suggested a role of nebulette in stabilizing the thin filament, and missense mutations in the nebulette gene were recently shown to be ...
Bang, Marie-Louise +12 more
core +2 more sources