Results 51 to 60 of about 924,459 (214)

The molecular dysregulation of excitation contraction coupling in patients with congenital muscle disorders [PDF]

, 2015
Excitation contraction coupling (ECC) is the process whereby an action potential spreading throughout the muscle membrane activates muscle contraction, by releasing Ca2+ from the Sarcoplasmic Reticulum (SR).
Rokach, Ori
core   +1 more source

Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy

Acta Neuropathologica Communications, 2019
Congenital myopathies (CM) form a genetically heterogeneous group of disorders characterized by perinatal muscle weakness. Here, we report an 11-year old male offspring of consanguineous parents of Lebanese origin.
H. Dafsari, N. M. Kocaturk, H. Daimagüler, A. Brunn, J. Dötsch, J. Weis, M. Deckert, S. Çırak   +7 more
semanticscholar   +1 more source

An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant

eNeurologicalSci, 2020
Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later ...
Masahiro Ohara, Yoshihiko Saito, Mutsufusa Watanabe, Saneyuki Mizutani, Masaki Kobayashi, Aritoshi Iida, Ichizo Nishino, Hiroto Fujigasaki   +7 more
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

A Fatal Case of Cor Pulmonale with Undetected Chronic Hypoventilation in an Infant with a Known Congenital Myopathy

Case Reports in Pediatrics, 2012
The authors of this paper wish to present a case of fatal cor pulmonale with right ventricular hypertrophy complicated by a congenital myopathy. It is our intention to demonstrate the importance of vigilant clinical assessment of children with a ...
John M. Holst, Mary J. Willis
doaj   +1 more source

Homozygosity for SCN4A Arg1142Gln causes congenital myopathy with variable disease expression

Neurology: Genetics, 2018
Congenital myopathy has recently been associated with biallelic pathogenic variants in the SCN4A gene that encodes the voltage-dependent sodium channel NaV1.4.1,2 In 13 previously reported cases,1,2 7 died in utero or shortly after birth. The 6 survivors
C. K. Sloth, Federico Denti, N. Schmitt, B. Bentzen, C. Fagerberg, J. Vissing, D. Gaist   +6 more
semanticscholar   +1 more source

Mitochondria‐Targeted Nanotherapeutics: A Promising Strategy in Modulating Mitochondrial Function, Transfer, and Transplantation

Advanced Science, EarlyView.
This review summarizes the pathogenic role of mitochondria in diseases and highlights mitochondrial transfer and transplantation as emerging therapeutic strategies. It systematically discusses how nanomaterials are engineered to facilitate these processes, and critically examines the current challenges and future perspectives for their clinical ...
Yuanyuan Su, Zhiyan Gong, Jiao Mu, Lili Huang, Pengfei Yang, Chenli Zhang, Lingshan Zhao, Liling Yang, Jun Deng, Xiaohui Liao   +9 more
wiley   +1 more source

Mitochondrial myopathy with respiratory muscle involvement: a case report

Arquivos de Neuro-Psiquiatria, 1983
A case of a 10-year-old patient with a benign congenital myopathy, suddenly aggravated because of an accentuated deficit in respiratory muscles is reported.
J. A. Levy, Ana M. Tsanaclis, P. A. P. Saraiva, Carmen C. Mion, Paulo N. B. Salum   +4 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

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Human Mutation, 2018
SH3 and cysteine‐rich domain‐containing protein 3 (STAC3) is an essential component of the skeletal muscle excitation–contraction coupling (ECC) machinery, though its role and function are not yet completely understood.
I. Zaharieva, A. Sarkozy, P. Munot, A. Manzur, G. O'Grady, J. Rendu, E. Malfatti, H. Amthor, Laurent Servais, J. Urtizberea, O. Abath, E. Zanoteli, S. Donkervoort, Juliet Taylor, J. Dixon, G. Poke, A. Foley, C. Holmes, Glyn Williams, M. Holder, S. Yum, L. Medne, S. Quijano-Roy, N. Romero, J. Fauré, Lucy H. Feng, L. Bastaki, M. Davis, R. Phadke, C. Sewry, C. Bonnemann, H. Jungbluth, C. Bachmann, S. Treves, F. Muntoni   +34 more
semanticscholar   +1 more source