Minicore Myopathy with External Ophthalmoplegia

associated with mutations in RYR1

Also Known As:

Minicore Disease; Minicore Myopathy; Multi-Minicore Disease; Multicore Disease; Multicore Myopathy; Multicore Myopathy With External Ophthalmoplegia; Multiminicore Disease; Multiminicore Disease With External Ophthalmoplegia; Multiminicore Myopathy

Networked: 66 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Central Core Myopathy (Central Core Disease)
2.	Congenital Structural Myopathies (Centronuclear Myopathy)
3.	Muscular Diseases (Myopathy)
4.	Malignant Hyperthermia
5.	Muscular Dystrophies (Muscular Dystrophy)

Experts

1.	Muntoni, Francesco: 11 articles (01/2019 - 10/2002)
2.	Treves, Susan: 10 articles (01/2020 - 10/2005)
3.	Jungbluth, Heinz: 10 articles (01/2019 - 06/2002)
4.	Zorzato, Francesco: 9 articles (01/2020 - 10/2005)
5.	Ferreiro, Ana: 6 articles (05/2008 - 06/2002)
6.	Pegoraro, Elena: 4 articles (01/2022 - 01/2018)
7.	Jungbluth, H: 4 articles (07/2015 - 10/2004)
8.	Sewry, Caroline A: 4 articles (12/2011 - 12/2004)
9.	Nishino, Ichizo: 3 articles (10/2021 - 06/2006)
10.	Bachmann, Christoph: 3 articles (01/2020 - 01/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Minicore Myopathy with External Ophthalmoplegia:

1.	Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA 01/01/2020 - "Peripheral blood mononuclear cells for reprogramming in this work were donated by a girl with clinically and genetically diagnosed multiminicore disease harboring compound heterozygote mutations of RYR1 gene. " 01/01/2020 - "An integration-free iPSC line SDQLCHi025-A from a girl with multiminicore disease carrying compound heterozygote mutations in RYR1 gene." 01/01/2019 - "Here we characterized a mouse model knocked-in for a frameshift mutation in RYR1 exon 36 (p.Gln1970fsX16) that is isogenic to that identified in one parent of a severely affected patient with recessively inherited multiminicore disease. " 01/01/2018 - "Here we used muscle biopsies of central core and multi-minicore disease patients with RyR1 mutations, as well as cellular and in vivo mouse models of the disease to characterize global cellular and mitochondrial Ca2+ signalling, mitochondrial function and gene expression associated with the disease. " 09/01/2008 - "We found multiminicore myopathy with clinical and histological variability in a large MH family with an unusual double RYR1 mutation, including a typical CCD-causing known mutant. "
2.	Selenoproteins (Selenoprotein)IBA 04/01/2019 - "Here we report a 23-year-old woman with respiratory failure, distal joint hyper-laxity, scoliosis and rigid spine due to multiminicore disease caused by a novel compound heterozygous mutation in the selenoprotein N1-encoding gene (SELN). " 07/01/2006 - "Mutations of selenoprotein N, 1 gene (SEPN1) cause rigid spine with muscular dystrophy type 1 (RSMD1), multiminicore disease, and desmin-related myopathy. " 05/01/2004 - "Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. " 10/16/2003 - "Minicore myopathy is a recessive disorder which shows four different phenotypes, the most frequent being the 'classical' one, with axial weakness, scoliosis and severe respiratory insufficiency; some of these cases have mutations in the selenoprotein N gene. " 10/01/2002 - "Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies."
3.	EnzymesIBA 09/01/2003 - "Skeletal muscle of patient 4 showed multiple areas, predominantly but not exclusively in the type I fibres, from which oxidative enzyme activities were absent, as seen in multicore disease. " 01/01/1987 - "Biopsies from both patients showed focal defects of oxidative enzyme activity as well as focal disturbances of cross-striation typical of minicore myopathy. " 01/01/2007 - "Multiminicore disease is a recessive congenital myopathy characterized by the presence of small cores or areas lacking oxidative enzymes, in skeletal muscle fibres. " 08/01/1984 - "Muscle biopsies showed atrophy, type 1 fibre preponderance, excessive variation in fibre size and shape, and multiple foci of myofibrillar disorganisation with loss of oxidative enzyme activity of the type found in multicore disease." 12/01/2011 - "The core myopathies, Central Core Disease and Multiminicore Disease, are heterogeneous congenital myopathies with the common defining histopathological feature of focally reduced oxidative enzyme activity (central cores, multiminicores). "
4.	Proteins (Proteins, Gene)FDA Link 10/01/2004 - "Mutations in the genes that encode the two proteins that coordinate this electrochemical conversion process (the DHPR and RyR1) result in a variety of skeletal muscle disorders including malignant hyperthermia (MH), central core disease (CCD), multiminicore disease, nemaline rod myopathy, and hypokalemic periodic paralysis. " 02/01/2015 - "Malignant hyperthermia (MH), Central Core Disease (CCD), Exertional/environmental Heat Stroke (EHS) and Multiminicore disease (MmD) are inherited disorders of calcium homeostasis in skeletal muscles directly related to mutations of genes coding for proteins of the CRU, primarily ryanodine receptor (RYR1). " 01/01/2020 - "Here, we fully characterized, using an integrated approach (deep phenotyping, muscle morphology, mRNA and protein evaluation in muscle biopsies), two siblings with congenital multicore myopathy harboring three TTN variants predicted to affect titin stability and titin-myosin interactions. " 01/01/2019 - "Multi-minicore Disease, one of the more common congenital myopathies, is frequently caused by recessive variants in either SELENON, encoding the endoplasmic reticulum glycoprotein selenoprotein N or RYR1, encoding a protein involved in calcium homeostasis and excitation-contraction coupling. "
5.	CalciumIBA 01/01/2014 - "Dysfunctional skeletal muscle calcium homeostasis plays a central role in the pathophysiology of several human and animal skeletal muscle disorders, in particular, genetic disorders associated with ryanodine receptor 1 (RYR1) mutations, such as malignant hyperthermia, central core disease, multiminicore disease and certain centronuclear myopathies. " 06/01/2008 - "Dysregulation of calcium signals because of defects of the skeletal muscle sarcoplasmic reticulum calcium release channel (ryanodine receptor; RyR1) is causative of several congenital muscle disorders including malignant hyperthermia (MH; MIM #145600), central core disease (CCD; MIM #11700), specific forms of multi-minicore disease (MmD; MIM # 255320) and centronuclear myopathy (CNM). " 02/01/2015 - "Malignant hyperthermia (MH), Central Core Disease (CCD), Exertional/environmental Heat Stroke (EHS) and Multiminicore disease (MmD) are inherited disorders of calcium homeostasis in skeletal muscles directly related to mutations of genes coding for proteins of the CRU, primarily ryanodine receptor (RYR1). " 01/01/2019 - "Multi-minicore Disease, one of the more common congenital myopathies, is frequently caused by recessive variants in either SELENON, encoding the endoplasmic reticulum glycoprotein selenoprotein N or RYR1, encoding a protein involved in calcium homeostasis and excitation-contraction coupling. "
6.	ConnectinIBA 12/19/2019 - "The genetic causes are diverse; central core disease is most often caused by mutations in ryanodine receptor 1 (RYR1), whereas multi-minicore disease is linked to pathogenic variants of several genes, including selenoprotein N (SELENON), RYR1 and titin (TTN). " 01/01/2020 - "Here, we fully characterized, using an integrated approach (deep phenotyping, muscle morphology, mRNA and protein evaluation in muscle biopsies), two siblings with congenital multicore myopathy harboring three TTN variants predicted to affect titin stability and titin-myosin interactions. "
7.	Protein Isoforms (Isoforms)IBA 01/01/2020 - "Furthermore, mutations that cause frameshifts in muscle-specific isoforms result in congenital multi-minicore myopathy. " 01/01/2019 - "Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy."
8.	Anesthetics (Anesthetic Agents)IBA 02/01/2014 - "A successful pregnancy outcome was achieved in a patient with multiminicore myopathy by proactively addressing potential genetic, orthopedic, and anesthetic concerns associated with this condition." 01/01/2007 - "Epidural anesthetic management using ropivacaine in a parturient with multi-minicore disease and susceptibility to malignant hyperthermia."
9.	AMP Deaminase (Myoadenylate Deaminase)IBA 12/01/2019 - "AHCE particularly occurs at onset of these conditions, which include dystrophinopathies, myotilinopathies, calpainopathy, caveolinopathy, dysferlinopathy, central core disease, multicore disease, desminopathy, MD1, MD2, hypoPP, malignant hyperthermia susceptibility, Pompe disease, McArdle disease, myoadenylate deaminase-deficiency, CPT2-deficiency, mitochondrial disorders, or myopathy with tubular aggregates. " 11/01/2013 - "LVHT has been described in association with dystrophinopathies, myotonic dystrophies, zaspopathies, laminopathies, dystrobrevinopathies, oculopharyngeal muscular dystrophy, tropomyosin-1 mutations, multiminicore disease, Danon disease, mitochondrial disorders, myoadenylate deaminase deficiency, Pompe's disease, glycogen storage disease-IV, fatty acid oxidation disorder, Barth syndrome, ryanodine receptor mutation, inclusion body myopathy, dystrophic epidermolysis bullosa, Charcot-Marie-Tooth neuropathy, hereditary cobolamine deficiency, beta-thalassemia, poliomyelitis, and Friedreich ataxia. "
10.	FilaminsIBA 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. "

Therapies and Procedures

1.	Anesthesia 05/01/2000 - "[Anesthesia in a child presenting a anhydrotic ectodermic dysplasia associated with a multiminicore myopathy]." 12/01/1985 - "Severe multicore disease associated with reaction to anesthesia."
2.	Anesthesia and Analgesia 05/01/2000 - "To report the perioperative management of anesthesia and analgesia in a child presenting with the association of multiminicore myopathy (MMM) and anhydrotic ectodermic dysplasia (AED). "