CENTRAL CORE DISEASE

Brain ◽  
1979 ◽  
Vol 102 (3) ◽  
pp. 581-594 ◽  
Author(s):  
V. H. PATTERSON ◽  
T. R. G. HILL ◽  
P. J. H. FLETCHER ◽  
J. R. HERON
Keyword(s):  
Central Core ◽  
Central Core Disease

scholarly journals Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease

2013 ◽  
Vol 23 (2) ◽  
pp. 120-132 ◽  
Author(s):  
Natalia Kraeva ◽  
Elena Zvaritch ◽  
Ann E. Rossi ◽  
Sanjeewa A. Goonasekera ◽  
Hilal Zaid ◽  
...  
Keyword(s):  
Central Core ◽  
Central Core Disease

P.4.12 Association of two mutations in the RYR1 gene in central core disease: Recessive or modifying effect?

2013 ◽  
Vol 23 (9-10) ◽  
pp. 763
Author(s):  
T. Cuperman ◽  
S. Alcântara ◽  
M. Canovas ◽  
L.U. Yamamoto ◽  
R.C. Pavanello ◽  
...  
Keyword(s):  
Central Core ◽  
Central Core Disease ◽  
Ryr1 Gene ◽  
Modifying Effect

068 Association of caudal agenesy syndrome/sporadic central core disease

1999 ◽  
Vol 3 (6) ◽  
pp. A57
Author(s):  
H. De Cauwer ◽  
L. Heytens ◽  
J.-J. Martin
Keyword(s):  
Central Core ◽  
Central Core Disease

scholarly journals Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein

2015 ◽  
Vol 2 (4) ◽  
pp. 421-432 ◽  
Author(s):  
Marine Cacheux ◽  
Ariane Blum ◽  
Muriel Sébastien ◽  
Anne Sophie Wozny ◽  
Julie Brocard ◽  
...  
Keyword(s):  
Functional Characterization ◽  
Central Core ◽  
Central Core Disease

scholarly journals Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes

2006 ◽  
Vol 395 (2) ◽  
pp. 259-266 ◽  
Author(s):  
Sylvie Ducreux ◽  
Francesco Zorzato ◽  
Ana Ferreiro ◽  
Heinz Jungbluth ◽  
Francesco Muntoni ◽  
...  
Keyword(s):  
Amino Acid ◽  
Malignant Hyperthermia ◽  
Ryanodine Receptor ◽  
Receptor Gene ◽  
Receptor Activation ◽  
Central Core ◽  
Central Core Disease ◽  
Amino Acid Substitutions ◽  
Time Data ◽  
Minicore Disease

More than 80 mutations in the skeletal muscle ryanodine receptor gene have been found to be associated with autosomal dominant forms of malignant hyperthermia and central core disease, and with recessive forms of multi-minicore disease. Studies on the functional effects of pathogenic dominant mutations have shown that they mostly affect intracellular Ca2+ homoeostasis, either by rendering the channel hypersensitive to activation (malignant hyperthermia) or by altering the amount of Ca2+ released subsequent to physiological or pharmacological activation (central core disease). In the present paper, we show, for the first time, data on the functional effect of two recently identified recessive ryanodine receptor 1 amino acid substitutions, P3527S and V4849I, as well as that of R999H, another substitution that was identified in two siblings that were affected by multi-minicore disease. We studied the intracellular Ca2+ homoeostasis of EBV (Epstein–Barr virus)-transformed lymphoblastoid cells from the affected patients, their healthy relatives and control individuals. Our results show that the P3527S substitution in the homozygous state affected the amount of Ca2+ released after pharmacological activation with 4-chloro-m-cresol and caffeine, but did not affect the size of the thapsigargin-sensitive Ca2+ stores. The other substitutions had no effect on either the size of the intracellular Ca2+ stores, or on the amount of Ca2+ released after ryanodine receptor activation; however, both the P3527S and V4849I substitutions had a small but significant effect on the resting Ca2+ concentration.

A PATIENT WITH SEVERE CENTRAL CORE DISEASE

2008 ◽  
Vol 101 (eLetters Supplement) ◽  
Author(s):  
Pallavi V Waikar
Keyword(s):  
Central Core ◽  
Central Core Disease

scholarly journals Functional Electrical Stimulation: A Possible Strategy to Improve Muscle Function in Central Core Disease?

2019 ◽  
Vol 10 ◽  
Author(s):  
Pierpaolo Iodice ◽  
Simona Boncompagni ◽  
Laura Pietrangelo ◽  
Lucia Galli ◽  
Enrico Pierantozzi ◽  
...  
Keyword(s):  
Electrical Stimulation ◽  
Functional Electrical Stimulation ◽  
Muscle Function ◽  
Central Core ◽  
Central Core Disease
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