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Total 11221 results found since Jan 2013.

Muscle belly union associated with simultaneous medial rectus recession for treatment of myopic myopathy: results in 33 eyes
A Finzi, P Versura & E C Campos
Source: Eye - February 14, 2014 Category: Opthalmology Authors: M Fresina Tags: muscle belly union medial rectus recession myopic myopathy strabismus fixus myopia Source Type: research

Genetic factors affecting statin concentrations and subsequent myopathy: a HuGENet systematic review
Thummel
Source: Genetics in Medicine - November 6, 2014 Category: Genetics & Stem Cells Authors: William J. CanestaroMelissa A. AustinKenneth E. Thummel Tags: muscle toxicity myopathy pharmacogenomics SLCO1B1 statins Source Type: research

A Look at Genetic Linkage between Clozapine-induced Agranulocytosis, Malignant Hyperthermia, Neuroleptic Malignant Syndrome, and Statin-induced Myopathy
by Nitin Pothen, MD; Shveta Kansal, MD; Theodor Rais, MD; Stacy Doumas, MD; and Ramon Solhkhah, MD Dr. Pothen and Dr. Kansal are with Ocean Medical Center, Hackensack Meridian Health in Brick, New Jersey. Dr. Rias is with Firelands Regional Health System-Sandusky in Sandusky, Ohio, and Mercy Health-St. Vincent Medical Center in Toledo, Ohio. Dr. […] The post A Look at Genetic Linkage between Clozapine-induced Agranulocytosis, Malignant Hyperthermia, Neuroleptic Malignant Syndrome, and Statin-induced Myopathy appeared first on Innovations in Clinical Neuroscience.
Source: Innovations in Clinical Neuroscience - November 1, 2019 Category: Neuroscience Authors: ICNS Online Editor Tags: Current Issue Medical Issues Review clozapine-induced agranulocytosis drug reaction malignant hyperthermia neuroleptic malignant syndrome statin-induced myopathy Source Type: research

Letter to the Editor: Is Dropped Head Syndrome in Sporadic Late-onset Nemaline Myopathy Always Untreatable?
Dear Editor: Dropped head syndrome (DHS) is a rare condition characterized by cervical paraspinal muscles weakness that causes a recognizable deformity with various degrees of “chin on chest” posture.1–3 Though the etiology of DHS is still unclear, some authors have suggested aging-related postural changes to be a mechanical cause of the disease.2,3 Moreover, DHS might […] The post Letter to the Editor: Is Dropped Head Syndrome in Sporadic Late-onset Nemaline Myopathy Always Untreatable? appeared first on Innovations in Clinical Neuroscience.
Source: Innovations in Clinical Neuroscience - April 1, 2020 Category: Neuroscience Authors: ICNS Online Editor Tags: Current Issue Letters to the Editor Movement Disorders Neurology Dropped Head Syndrome Late-onset Nemaline Myopathy Muscle Biopsy neuromuscular diseases Source Type: research

P.9.13 Congenital myopathies in a pediatric referral center
Congenital myopathies are a group of inherited neuromuscular disorders presenting in childhood and mainly characterised by muscle biopsy features. Among them, nemaline myopathy, centronuclear/myotubular myopathy and core myopathy are the most common forms. Diagnosis is sometimes challenging since there is clinical and genetic overlap between different forms of congenital myopathies and some genetically confirmed patients may not show typical histopathological findings, at least in early stages. We aimed to document congenital myopathy cases diagnosed in our pediatric center in the last 10years. We reviewed clinical and his...
Source: Neuromuscular Disorders - September 7, 2013 Category: Neurology Authors: M. Karakaya, B. Talim, G. Kale, H. Topaloglu Source Type: research

Congenital myopathies (cnm)
Myotubular and other centronuclear myopathies are congenital conditions characterised by the central location of the nucleus in the muscle cells. The most common form is the ultra-rare X-linked Myotubular Myopathy (XLMTM) with an estimated incidence of 1:50,000 male births. The myotubular and centronuclear myopathy (MTM& CNM) patient registry is an international, disease-specific, patient-reported registry collecting demographic, genetic and clinical data on living and deceased patients and female carriers of XLMTM.
Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: J. Bullivant, L. Murphy, K. Napier, L. Render, A. Hunter, M. Spring, A. Lennox, H. Lochmuller, M. Bellgard, C. Marini-Bettolo Source Type: research

Congenital myopathies – centronuclear myopathies
Myotubular and other centronuclear myopathies are congenital neuromuscular conditions characterised by the central location of the nucleus in muscle cells. The presumably most common form is the ultra-rare X-linked myotubular myopathy (XLMTM) with an estimated incidence of 1 in 50,000 male births. The Myotubular and Centronuclear Myopathy Patient Registry ("the registry") collects demographic, genetic and clinical data on affected individuals and female carriers of XLMTM from all over the world.
Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: J. Bullivant, B. Porter, L. Murphy, L. Render, M. Bellgard, A. Lennox, M. Spring, A. Hollander, C. B önnemann, H. Jungbluth, A. Buj-Bello, J. Dowling, C. Marini-Bettolo Source Type: research

Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 p.R69C Mice.
Abstract X-linked myotubular myopathy is a congenital myopathy caused by deficiency of myotubularin. Patients often present with severe perinatal weakness, requiring mechanical ventilation to prevent death from respiratory failure. We recently reported that an activin receptor type IIB inhibitor produced hypertrophy of type 2b myofibers and modest increases of strength and life span in the severely myopathic Mtm1δ4 mouse model of X-linked myotubular myopathy. We have now performed a similar study in the less severely symptomatic Mtm1 p.R69C mouse in hopes of finding greater treatment efficacy. Activin receptor ty...
Source: The American Journal of Pathology - April 10, 2014 Category: Pathology Authors: Lawlor MW, Viola MG, Meng H, Edelstein RV, Liu F, Yan K, Luna EJ, Lerch-Gaggl A, Hoffmann RG, Pierson CR, Buj-Bello A, Lachey JL, Pearsall S, Yang L, Hillard CJ, Beggs AH Tags: Am J Pathol Source Type: research

Congenital myopathies (cnm)
X-Linked myotubular myopathy (XLMTM) is a congenital myopathy caused by mutations in MTM1 gene encoding a 3-phosphoinositides phosphatase myotubularin. Typically, XLMTM patients clinically develop marked generalized hypotonia and muscle weakness with respiratory insufficiency since birth and pathologically show small-size fibers with peripheral halo and centrally-placed nuclei in the muscle. We performed RNA-seq screening on a cohort of 9 undiagnosed cases who were pathologically diagnosed as myotubular myopathy but had no mutation in exonic regions in MTM1.
Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: T. Kumutpongpanich, S. Hayashi, A. Iida, M. Okubo, M. Matsuo, S. Noguchi, I. Nishino Source Type: research

Congenital myopathies (cnm)
Myotubular myopathy is a rare genetic disease which affects skeletal and respiratory muscles and it is caused by mutations in the MTM1 gene. The disease is classified as a recessive X-linked inheritance and manifests in living born males with an estimated incidence of 1/50,000. Myotubular myopathy is characteristic and very severe, including hypotonia and generalized muscle weakness since birth. Most patients die in the first year of life due to respiratory failure. However, many cases with a more benign phenotype have recently been identified through molecular analysis.
Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: L. Souza, C. Almeida, L. Silva, R. Pavanello, J. Gurgel-Gianneti, E. Zanoteli, M. Zatz, P. Otto, M. Vainzof Source Type: research

Astellas and Kate Therapeutics Announce Exclusive License Agreement for KT430
KT430 is a preclinical, next-generation investigational gene therapy to treat X-linked myotubular myopathy (XLMTM) TOKYO and SAN DIEGO, June 8, 2023 -- (Healthcare Sales & Marketing Network) -- Astellas Pharma Inc. (TSE: 4503, President and CEO: Naoki ... Biopharmaceuticals, Regenerative Medicine, Licensing Astellas Pharma, Kate Therapeutics, X-linked myotubular myopathy, gene therapy
Source: HSMN NewsFeed - June 8, 2023 Category: Pharmaceuticals Source Type: news

Comprehensive Carrier Screening and Molecular Diagnostic Testing for Recessive Childhood Diseases
Clinical Scenarios The test is designed both for preconception carrier testing of couples wishing to start a family and for molecular diagnosis in children suspected of being affected by a recessive childhood disease. The published (research) version of the test included 448 childhood recessive illnesses with severe clinical manifestations1. A revised panel is undergoing clinical validation for use as a laboratory developed test (LDT) with an intention of being offered via a laboratory regulated by the Clinical Laboratory Improvement Amendments (CLIA). The clinical panel contains 595 childhood recessive diseases that are d...
Source: PLOS Currents Evidence on Genomic Tests - May 2, 2012 Category: Genetics & Stem Cells Authors: stephenkingsmore Source Type: research

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
This report should aid diagnosis and thus the clinical management and genetic counseling ofMTM1 carrier females. Furthermore, the clinical and pathological history of this cohort may be useful for therapeutic projects in males with XLMTM, as it illustrates the spectrum of possible evolution of the disease in patients surviving long term.
Source: Acta Neuropathologica - July 6, 2017 Category: Neurology Source Type: research

Spectrum of congenital myopathies: A single centre experience
Conclusion: CMs are rare and the diagnosis can only be established on muscle biopsy. Defining the specific CMs helps the clinician in counseling the patient and family.
Source: Neurology India - July 16, 2013 Category: Neurology Authors: Megha S UppinAK MeenaChalla Sundaram Source Type: research