Central Core Myopathy (Central Core Disease)

An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)

Also Known As:

Networked: 194 relevant articles (2 outcomes, 9 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Muscular Diseases (Myopathy)
2.	Congenital Structural Myopathies (Centronuclear Myopathy)
3.	Malignant Hyperthermia
4.	Nemaline Myopathies (Nemaline Myopathy)
5.	Hypokalemic Periodic Paralysis (Periodic Paralysis, Hypokalemic)

Experts

1.	Dirksen, Robert T: 14 articles (01/2015 - 07/2002)
2.	Muntoni, Francesco: 13 articles (03/2014 - 02/2003)
3.	Jungbluth, Heinz: 13 articles (06/2011 - 06/2002)
4.	Treves, Susan: 12 articles (02/2015 - 02/2003)
5.	Zorzato, Francesco: 10 articles (02/2015 - 02/2003)
6.	MacLennan, David H: 8 articles (10/2012 - 08/2003)
7.	Jungbluth, H: 7 articles (07/2015 - 07/2002)
8.	Meissner, Gerhard: 7 articles (06/2014 - 02/2003)
9.	Xu, Le: 7 articles (06/2014 - 02/2003)
10.	Monnier, Nicole: 6 articles (07/2013 - 06/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Central Core Myopathy:

1.	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 03/01/2008 - "Additionally, the stress syndrome in pigs, caused by mutations in the porcine RYR1 gene, helped to localize the gene causing malignant hypertermia and Central Core myopathy in humans. " 10/15/2004 - "In this study we report for the first time the functional properties of human myotubes isolated from patients harboring the native RYR1 I4898T and R4893W mutations linked to central core disease. " 01/01/2015 - "Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region." 10/18/2014 - "Hot spot mutation in C-terminal of the RYR1 gene can only be identified in patients with central core disease, so we suggest this hot spot gene mutation screening apply to the suspicious patient with central core disease only." 10/18/2014 - "In the family case (Patient 2) of central core disease, the c.14678G>A (p.Arg4893Gln) mutation in 102 extron of RYR1 was identified in three members of the family, which had been reported to be a pathogenic mutation. "
2.	Dynamin IIIBA 01/01/2007 - "These characteristic findings on muscle MRI confirm similar findings reported for CT imaging in dynamin 2 related dominant centronuclear myopathy and may help to differentiate this disorder from central core disease and other myopathies."
3.	CalciumIBA 03/01/2014 - "Several human and animal myopathies, such as malignant hyperthermia (MH), central core disease and equine recurrent exertional rhabdomyolysis (RER) are confirmed or thought to be associated with dysfunction of skeletal muscle calcium regulation. " 12/01/2000 - "Skeletal muscle calcium channelopathies can cause hypokalaemic periodic paralysis, malignant hyperthermia and central core disease. " 02/15/2003 - "We have identified a patient affected by a relatively severe form of central core disease (CCD), carrying a heterozygous deletion (amino acids 4863-4869) in the pore-forming region of the sarcoplasmic reticulum calcium release channel. " 02/01/2003 - "Central core disease is an autosomal dominant disorder with variable penetrance which has been linked principally to the gene for the skeletal muscle calcium release channel (RYR1). " 12/01/2001 - "Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis."
4.	Proteins (Proteins, Gene)IBA 06/01/1994 - "Expression of cytoskeleton proteins in central core disease." 11/01/2007 - "However, five muscle biopsies from central core disease presumably with disturbed intracellular Ca2+ homeostasis and a muscle biopsy from paramyotonia congenita with myotonia showed no activation of these proteins. " 10/01/1995 - "Familial hypertrophic cardiomyopathy, central core disease, nemaline myopathy, and autosomal recessive limb-girdle muscular dystrophy have all been shown to involve mutations in proteins associated with the sarcomere." 06/01/2006 - "We review SR structure and function during normal skeletal muscle activity, the proteins that orchestrate calcium storage, release, and reuptake, and how phenotypically distinct muscle diseases (e.g., malignant hyperthermia, central core disease, and Brody disease) can result from subtle alterations in the activity of several key components of the SR calcium-regulatory machinery." 09/01/2000 - "Abnormalities in these proteins play a key role in malignant hyperthermia (MH), a toxic response to anesthetics, and in central core disease (CCD), a muscle myopathy. "
5.	AntibodiesIBA 01/15/2003 - "An examination of biopsies from patients with multi-minicore myopathy, central core myopathy and neurogenic target fibers with core-like target formations (TF) revealed strong reactivity of all the cores and target formations with two different anti-filamin C antibodies. " 08/01/1998 - "Studies of candidate proteins, such as nebulin in nemaline myopathy, and the ryanodine receptor in central core disease, are, however, in progress, and as more defective genes are identified, and antibodies become available, immunocytochemistry will have an increasingly important role. "
6.	nebulinIBA 08/01/1998 - "Studies of candidate proteins, such as nebulin in nemaline myopathy, and the ryanodine receptor in central core disease, are, however, in progress, and as more defective genes are identified, and antibodies become available, immunocytochemistry will have an increasingly important role. "
7.	Polymorphic catecholergic ventricular tachycardiaIBA 04/25/2008 - "Their missense mutations, which are clustered in three regions that correspond to each other, cause hereditary disorders such as malignant hyperthermia and central core disease in skeletal muscle and catecholaminergic polymorphic ventricular tachycardia in cardiac muscle. " 01/01/2012 - "malignant hyperthermia (MH) and central core disease (CCD), catecholaminergic polymorphic ventricular tachycardia (CPVT), and arrhythmogenic right ventricular dysplasia (ARVD). " 11/01/2010 - "Mutations in RyR2 are associated with human disorders such as catecholaminergic polymorphic ventricular tachycardia whereas mutations in RyR1 underlie diseases such as central core disease and malignant hyperthermia. " 07/01/2010 - "Malignant hyperthermia, central core disease, and catecholaminergic polymorphic ventricular tachycardia have been genetically linked to mutations in either RyR1 or RyR2. " 11/01/2013 - "There are three human RyR subtypes, and several debilitating diseases are linked to heritable mutations in RyR1 and RyR2 including malignant hypothermia, central core disease, catecholaminergic polymorphic ventricular tachycardia (CPVT) and arrhythmogenic right ventricular dysplasia type 2 (ARVD2). "
8.	PotassiumIBA 10/01/2001 - "Alteration of Ca channels cause muscle dysfunction periodic paralysis with or without potassium changes, myasthenia or myasthenic disorders, like Lambert Eaton syndrome, amyotrophic lateral sclerosis, Central Core disease, malignant hyperthermia. " 01/01/2015 - "We identify regulators of potassium homeostasis as biomarkers of disease that may reveal therapeutic targets in human patients with myopathy of central core disease (CCD). " 01/01/1984 - "A large increase in sodium (Na) and chlorine (Cl), and a decrease in potassium (K) was typical of myotubular myopathy, while a moderate increase in Na and Cl was found in central core disease and nemaline myopathy. " 01/01/2001 - "(1) Sodium channelopathies: familial generalized epilepsy with febrile seizures plus, hyperkalemic periodic paralysis, paramyotonias, hypokalemic periodic paralysis; (2) potassium channelopathies: benign infantile epilepsy, episodic ataxia type 1; (3) calcium channelopathies: episodic ataxia type 2, spinocerebellar ataxia type 6, familial hemiplegic migraine, hypokalemic periodic paralysis, central core disease, malignant hyperthermia syndrome, congenital stationary night blindness; (4) chloride channelopathies: myotonia congenitas; (5) ACh receptor channelopathies: autosomal dominant frontal lobe nocturnal epilepsy, congenital myasthenic syndromes; (6) glycine receptor channelopathies: hyperekplexia. "
9.	Selenoproteins (Selenoprotein)IBA 12/01/2012 - "Central Core Disease (CCD) and Multi-minicore Disease (MmD) (the "core myopathies") have been mainly associated with mutations in the skeletal muscle ryanodine receptor (RYR1) and the selenoprotein N (SEPN1) gene. " 12/27/2005 - "MmD is clinically heterogeneous and distinct phenotypes have been associated with recessive mutations in either the selenoprotein N (SEPN1) or the skeletal muscle ryanodine receptor (RYR1) gene, also implicated in central core disease and malignant hyperthermia. " 01/01/2007 - "Marked clinical variability corresponds to genetic heterogeneity: the most instantly recognizable classic phenotype characterized by spinal rigidity, early scoliosis and respiratory impairment is due to recessive mutations in the selenoprotein N (SEPN1) gene, whereas recessive mutations in the skeletal muscle ryanodine receptor (RYR1) gene have been associated with a wider range of clinical features comprising external ophthalmoplegia, distal weakness and wasting or predominant hip girdle involvement resembling central core disease (CCD). "
10.	L-Type Calcium Channels (Dihydropyridine Receptor)IBA 07/01/2000 - "Skeletal-muscle pathology can be caused by mutations in ryanodine receptors (malignant hyperthermia, porcine stress syndrome, central-core disease), dihydropyridine receptors (familial hypokalemic periodic paralysis, malignant hyperthermia, muscular dysgenesis) or Ca(2+)pumps (Brody disease). " 08/09/2013 - "Cys residues subject to pO2-coupled oxidation are distributed widely within the cytoplasmic domain of RyR1 in multiple functional domains implicated in RyR1 activity-regulating interactions with the L-type Ca(2+) channel (dihydropyridine receptor) and FK506-binding protein 12 as well as in "hot spot" regions containing sites of mutation implicated in malignant hyperthermia and central core disease. " 05/01/2011 - "It provides a time line over the past half century of the highlights of research on malignant hyperthermia (MH), central core disease (CCD) and catecholaminergic polymorphic ventricular tachycardia (CPVT), that resulted in the identification of the ryanodine receptor (RYR), calsequestrin (CASQ) and dihydropyridine receptor (CACNA1S) genes as sites of disease-causing mutations. "

Therapies and Procedures

1.	Heart Transplantation (Grafting, Heart) 06/01/1992 - "Heart transplantation in a patient with central core disease."
2.	Spinal Fusion (Spondylosyndesis) 01/15/2005 - "A case report of two siblings (ages 14 and 17 years) with central core disease and prior malignant hyperthermia successfully treated with spinal fusion surgery for severe kyphoscoliosis. " 01/15/2005 - "Two siblings with central core disease, history of malignant hyperthermia, and severe kyphosing scoliosis (187 degrees and 108 degrees) underwent correction of deformity and spinal fusion surgery. "
3.	Mechanical Ventilators (Ventilator) 02/01/2006 - "This case was presented to emphasize that patients with respiratory distress who cannot be weaned from the ventilator should be evaluated for central core disease with an atypical presentation."
4.	Denervation 01/01/2011 - "Review of the original muscle biopsy showed classical features of central core disease with no evidence to suggest denervation, such that the diagnosis of spinal muscular atrophy could not have been suspected in the absence of the family history."
5.	Cesarean Section (Caesarean Section) 05/01/2008 - "We describe the anaesthetic management of a 21-year-old lady with central core disease for elective Caesarean section. " 05/01/2008 - "Caesarean section in a complicated case of central core disease."