Results 1 to 10 of about 2,143,667 (228)

Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study [PDF]

Clinical Case Reports
Key Clinical Message Homozygous variants of Calcium Voltage‐Gated Channel Subunit Alpha1 S (CACNA1S) gene mutation were previously identified as causes of periodic paralysis and congenital early‐onset myopathy, while it could be manifested as a late ...
Tara Khoeini, Ariana Kariminejad, Yalda Nilipour, Armin Ariaei, Hossein Najmabadi, Mojtaba Arabshahi, Mehrshid Faraji Zonooz, Bahram Haghi Ashtiani   +7 more
doaj   +3 more sources

Cored in the act: the use of models to understand core myopathies [PDF]

Disease Models & Mechanisms, 2019
The core myopathies are a group of congenital myopathies with variable clinical expression – ranging from early-onset skeletal-muscle weakness to later-onset disease of variable severity – that are identified by characteristic ‘core-like’ lesions in ...
Aurora Fusto, Louise A. Moyle, Penney M. Gilbert, Elena Pegoraro   +3 more
doaj   +3 more sources

Case report: A creatine kinase-borg scale values-based approach to tailor physical training in a central core myopathy patient [PDF]

Frontiers in Physiology
BackgroundPatients with central core myopathy (CCM) can be at risk of exercise-induced rhabdomyolysis and myalgia. Despite its possible positive effects, physical training has been long avoided in these patients as no population-specific exercise ...
Oscar Crisafulli, Jessica Lacetera, Giorgio Bottoni, Angela Berardinelli, Luca Grattarola, Martina Veltroni, Stefano Acquadro, Massimo Negro, Emanuela Lavaselli, Giuseppe D’Antona, Giuseppe D’Antona   +10 more
doaj   +2 more sources

READYCOM: protocol for a 2-year prospective natural history and cross-sectional muscle-fatigability study for improving trial readiness in congenital myopathies [PDF]

BMJ Open
Introduction Congenital myopathies (CMYO) are a group of rare hereditary muscle diseases defined by characteristic abnormalities on muscle biopsy. Several types, including the core myopathies central core disease and multi-minicore disease, nemaline ...
Heinz Jungbluth, Renske I Wadman, Nicol C Voermans, Bart Bartels, W Ludo van der Pol, Nens van Alfen, Jan T Groothuis, Sanne A J H van de Camp, Roosmarijn Brenninkmeijer, Jeroen L M van Doorn, Elisabeth C M de Laat, Lisa Pomp, Lizan Stinissen, Donnie Cameron, Corrie E Erasmus, Nicoline B M Voet   +15 more
doaj   +2 more sources

A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy

Frontiers in Neurology, 2021
Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-
Kun Huang, Kun Huang, Fang-Fang Bi, Huan Yang   +3 more
doaj   +1 more source

Loss-of-rescue of Ryr1 I4895T-related pathology by the genetic inhibition of the ER stress response mediator CHOP

Scientific Reports, 2022
RYR1 is the gene encoding the ryanodine receptor 1, a calcium release channel of the endo/sarcoplasmic reticulum. I4898T in RYR1 is one of the most common mutations that give rise to central core disease (CCD), with a variable phenotype ranging from mild
Serena Germani, Alessia Celeste Marchetti, Andrea Guidarelli, Orazio Cantoni, Vincenzo Sorrentino, Ester Zito   +5 more
doaj   +1 more source

A review of several myopathy related to mitochondrial dysfunction

Нотатки сучасної біології, 2022
The balance of protein production and consumption in muscles depends to a large extent on normal mitochondrial function. Mitochondrial dysfunction is inseparable from the occurrence of myopathy.
Wang Nan, Oleksandr Motuziuk, Dmytro Davydenko   +2 more
doaj   +1 more source

A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease

Pediatric Rheumatology Online Journal, 2021
Background Dermatomyositis is an inflammatory muscle disease caused by immune-mediated muscle injury, and central core disease (CCD) is a congenital myopathy associated with disturbed intracellular calcium homeostasis and excitation-contraction coupling.
Min Jung Kim, Mi Hyeon Kim, Sung-Hye Park, Yeong Wook Song   +3 more
doaj   +1 more source

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

Acta Neuropathologica Communications, 2022
Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myopathy (cores ...
Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro   +33 more
doaj   +1 more source

Congenital myopathies: A clinicopathological study of 10 cases in a tertiary care hospital of North India

Journal of Pediatric Neurosciences, 2021
Objective: Congenital myopathies (CMs) are rare neuromuscular disorders. Through this article, authors want to present a clinicopathological study of 10 cases of CM. Materials and Methods: The study included patients with histopathologically confirmed CM
Siddharth Maheshwari, Ishita Pant, Kiran Bala, Vibhor Paradasani   +3 more
doaj   +1 more source