Bilateral congenital lumbar hernias in a patient with central core disease – A case report

[1]  G. Ravenscroft,et al.  Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus. , 2015, Brain : a journal of neurology.

[2]  N. Roewer,et al.  Evaluation of suspected malignant hyperthermia events during anesthesia , 2013, BMC Anesthesiology.

[3]  K. Vagholkar,et al.  Congenital Lumbar Hernia with Lumbocostovertebral Syndrome: A Case Report and Review of the Literature , 2013, Case Reports in Pediatrics.

[4]  Chung-Hyun Cho,et al.  STIM1 negatively regulates Ca²⁺ release from the sarcoplasmic reticulum in skeletal myotubes. , 2013, The Biochemical journal.

[5]  R. Finkel,et al.  Severe congenital RYR1-associated myopathy , 2013, Neurology.

[6]  B. Engelen,et al.  A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene , 2013, Journal of Neurology.

[7]  E. Finch,et al.  STIM1-Ca2+ Signaling Is Required for the Hypertrophic Growth of Skeletal Muscle in Mice , 2012, Molecular and Cellular Biology.

[8]  J. Halsall,et al.  Store-operated Ca2+ Entry in Malignant Hyperthermia-susceptible Human Skeletal Muscle* , 2010, The Journal of Biological Chemistry.

[9]  K. Harris,et al.  Lumbocostovertebral syndrome with associated VACTERL anomalad: a neonatal case report , 2009, Journal of Perinatology.

[10]  M. Swash,et al.  Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene , 2009, Neuromuscular Disorders.

[11]  S. Kapoor,et al.  An incomplete form of lumbocostovertebral syndrome in association with atrial septal defect, arthrogryposis and clubfeet , 2009, Indian journal of pediatrics.

[12]  F. Muntoni,et al.  Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. , 2008, Current opinion in pharmacology.

[13]  J. Eu,et al.  STIM1 signalling controls store-operated calcium entry required for development and contractile function in skeletal muscle , 2008, Nature Cell Biology.

[14]  B. Akçora,et al.  A different type of congenital lumbar hernia associated with the lumbocostovertebral syndrome. , 2008, Journal of pediatric surgery.

[15]  M. Zatz,et al.  Central core disease due to recessive mutations in RYR1 gene: Is it more common than described? , 2007, Muscle & nerve.

[16]  S. Ducreux,et al.  Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders , 2005, Neuromuscular Disorders.

[17]  M. Rudnicki,et al.  Muscle function and dysfunction in health and disease. , 2005, Birth defects research. Part C, Embryo today : reviews.

[18]  N. Romero,et al.  Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. , 2003, Brain : a journal of neurology.

[19]  G. Ávila,et al.  The Pore Region of the Skeletal Muscle Ryanodine Receptor Is a Primary Locus for Excitation-Contraction Uncoupling in Central Core Disease , 2003, The Journal of general physiology.

[20]  E. Haan,et al.  Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene , 2003, Neuromuscular Disorders.

[21]  A. Al-Salem,et al.  Focal nodular hyperplasia of the liver with the lumbo-costovertebral syndrome. , 1996, Journal of pediatric surgery.

[22]  Azizkhan Rg,et al.  Observations and current operative management of congenital lumbar hernias during infancy. , 1991 .

[23]  S. Fakhry,et al.  Observations and current operative management of congenital lumbar hernias during infancy. , 1991, Surgery, gynecology & obstetrics.

[24]  Touloukian Rj The lymbocostovertebral syndrome: a single somatic defect. , 1972 .