With Uniform Type 1 Fiber Congenital Neuromuscular Disease

12/04/2020 - "Interestingly, typical CCD and 40% of CNMDU1 cases are caused by the same mutations in RYR1, and thus CNMDU1 has been considered an early precursor to CCD. "
01/08/2008 - "To investigate whether CNMDU1 is associated with RYR1 mutation. "
12/04/2020 - "Our results indicate that CNMDU1 due to RYR1 mutation is a de facto core myopathy."
12/01/2011 - "The Ala4894Thr RyR1 variant was found in a Japanese patient with susceptibility to MH, and the Ala4894Pro variant in a rare case of myopathy: congenital neuromuscular disease with uniform type 1 fiber (CNMDU1). "
12/01/2011 - "Mutated p.4894 RyR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1)."

10/01/2010 - "We report a case of safe perioperative management with general anesthesia, using total intravenous anesthesia, propofol, fentanyl and a non-depolarizing muscle relaxant but avoiding the use of any inhaled anesthetics or depolarizing muscle relaxants to prevent malignant hyperthermia and postoperative respiratory failure, during anesthetic management for cranioplasty for premature synostosis of the cranial sutures in a pediatric patient of CNMDU1."

10/01/2010 - "We report a case of safe perioperative management with general anesthesia, using total intravenous anesthesia, propofol, fentanyl and a non-depolarizing muscle relaxant but avoiding the use of any inhaled anesthetics or depolarizing muscle relaxants to prevent malignant hyperthermia and postoperative respiratory failure, during anesthetic management for cranioplasty for premature synostosis of the cranial sutures in a pediatric patient of CNMDU1."

10/01/2010 - "We report a case of safe perioperative management with general anesthesia, using total intravenous anesthesia, propofol, fentanyl and a non-depolarizing muscle relaxant but avoiding the use of any inhaled anesthetics or depolarizing muscle relaxants to prevent malignant hyperthermia and postoperative respiratory failure, during anesthetic management for cranioplasty for premature synostosis of the cranial sutures in a pediatric patient of CNMDU1."

10/01/2010 - "Anesthetic case in a child with congenital neuromuscular disease with uniform type 1 fibers (CNMDU1)."
10/01/2010 - "We report a case of safe perioperative management with general anesthesia, using total intravenous anesthesia, propofol, fentanyl and a non-depolarizing muscle relaxant but avoiding the use of any inhaled anesthetics or depolarizing muscle relaxants to prevent malignant hyperthermia and postoperative respiratory failure, during anesthetic management for cranioplasty for premature synostosis of the cranial sutures in a pediatric patient of CNMDU1."

12/04/2020 - "Interestingly, in 5 CNMDU1 cases with the RYR1 mutation, RYR1, and triadin were similarly present in core-like areas, while TOM20 was absent in the subsarcolemmal region. "
12/04/2020 - "To better understand the nature of CNMDU1, we re-evaluated muscle biopsies from 16 patients with CNMDU1 using immunohistochemistry to RYR1, triadin and TOM20, and compared this to muscle biopsies from 36 typical CCD patients. "

06/01/2012 - "To report the first case of surgical treatment for severe kyphoscoliosis associated with respiratory disorder in a patient with congenital neuromuscular disease with uniform type 1 fibers (CNMDU1), including management of the possible onset of malignant hyperthermia (MH) in general anesthesia. "
10/01/2010 - "We report a case of safe perioperative management with general anesthesia, using total intravenous anesthesia, propofol, fentanyl and a non-depolarizing muscle relaxant but avoiding the use of any inhaled anesthetics or depolarizing muscle relaxants to prevent malignant hyperthermia and postoperative respiratory failure, during anesthetic management for cranioplasty for premature synostosis of the cranial sutures in a pediatric patient of CNMDU1."

10/01/2010 - "We report a case of safe perioperative management with general anesthesia, using total intravenous anesthesia, propofol, fentanyl and a non-depolarizing muscle relaxant but avoiding the use of any inhaled anesthetics or depolarizing muscle relaxants to prevent malignant hyperthermia and postoperative respiratory failure, during anesthetic management for cranioplasty for premature synostosis of the cranial sutures in a pediatric patient of CNMDU1."