keyword
MENU ▼
Read by QxMD icon Read
search

hereditary myopathies

keyword
https://www.readbyqxmd.com/read/28181274/hereditary-myopathies-with-early-respiratory-insufficiency-in-adults
#1
Elie Naddaf, Margherita Milone
INTRODUCTION: Hereditary myopathies with early respiratory insufficiency as a predominant feature of the clinical phenotype are uncommon and underestimated in adults. METHODS: We reviewed the clinical and laboratory data of patients with hereditary myopathies that demonstrated early respiratory insufficiency prior to the need for ambulatory assistance. Only patients with disease-causing mutations or a specific histopathological diagnosis were included. Patients with cardiomyopathy were excluded...
February 9, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28064324/mitochondrial-iron-sulfur-cluster-biogenesis-from-molecular-understanding-to-clinical-disease
#2
Majid Alfadhel, Marwan Nashabat, Qais Abu Ali, Khalid Hundallah
Iron_sulfur clusters (ISCs) are known to play a major role in various protein functions. Located in the mitochondria, cytosol, endoplasmic reticulum and nucleus, they contribute to various core cellular functions. Until recently, only a few human diseases related to mitochondrial ISC biogenesis defects have been described. Such diseases include Friedreich ataxia, combined oxidative phosphorylation deficiency 19, infantile complex II/III deficiency defect, hereditary myopathy with lactic acidosis and mitochondrial muscle myopathy, lipoic acid biosynthesis defects, multiple mitochondrial dysfunctions syndromes and non ketotic hyperglycinemia due to glutaredoxin 5 gene defect...
January 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/28056872/a-limb-girdle-myopathy-phenotype-of-runx2-mutation-in-a-patient-with-cleidocranial-dysplasia-a-case-study-and-literature-review
#3
Sung-Ju Hsueh, Ni-Chung Lee, Shu-Hua Yang, Han-I Lin, Chin-Hsien Lin
BACKGROUND: Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteoblasts, CCD typically affects the skeletal and dental systems. Few studies have investigated RUNX2 mutation effects on non-skeletal systems. Here, we describe limb-girdle myopathy, an uncommon phenotype of CCD, in a patient with a heterozygous missense mutation (p.R225Q) in the RUNX2 gene...
January 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28056338/hanac-col4a1-mutation-in-mice-leads-to-skeletal-muscle-alterations-due-to-a-primary-vascular-defect
#4
Simon Guiraud, Tiffany Migeon, Arnaud Ferry, Zhiyong Chen, Souhila Ouchelouche, Marie-Christine Verpont, Yoshikazu Sado, Valérie Allamand, Pierre Ronco, Emmanuelle Plaisier
Collagen IV is a major component of basement membranes (BMs). The α1(IV) chain, encoded by the COL4A1 gene, is expressed ubiquitously and associates with the α2(IV) chain to form the α1α1α2(IV) heterotrimer. Several COL4A1 mutations affecting a conformational domain containing integrin-binding sites are responsible for the systemic syndrome of hereditary angiopathy, nephropathy, aneurysms, and cramps (HANAC). To analyze the pathophysiology of HANAC, Col4a1 mutant mice bearing the p.Gly498Val mutation were generated...
January 3, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/27888415/magnetic-resonance-imaging-patterns-of-muscle-involvement-in-genetic-muscle-diseases-a-systematic-review
#5
REVIEW
Doris G Leung
A growing body of the literature supports the use of magnetic resonance imaging as a potential biomarker for disease severity in the hereditary myopathies. We performed a systematic review of the medical literature to evaluate patterns of fat infiltration observed in magnetic resonance imaging studies of muscular dystrophy and congenital myopathy. Searches were performed using MEDLINE, EMBASE, and grey literature databases. Studies that described fat infiltration of muscles in patients with muscular dystrophy or congenital myopathy were selected for full-length review...
November 25, 2016: Journal of Neurology
https://www.readbyqxmd.com/read/27875632/variable-phenotypic-expression-and-onset-in-myh14-distal-hereditary-motor-neuropathy-phenotype-in-a-large-multigenerational-north-american-family
#6
Stanley Iyadurai, W David Arnold, John T Kissel, Corey Ruhno, Vicki L Mcgovern, Pamela J Snyder, Thomas W Prior, Jennifer Roggenbuck, Arthur H Burghes, Stephen J Kolb
INTRODUCTION: Distal hereditary motor neuropathy (dHMN) causes distal-predominant weakness without prominent sensory loss. Myosin heavy chain disorders most commonly result in distal myopathy and cardiomyopathy with or without hearing loss, but a complex phenotype with dHMN, myopathy, hoarseness, and hearing loss was reported in a Korean family with a c.2822G>T mutation in MYH14. In this study we report phenotypic features in a North American family with the c.2822G>T in MYH14. METHODS: Clinical and molecular characterization was performed in a large, 6-generation, Caucasian family with MYH14 dHMN...
November 22, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27809552/utility-of-surgical-myotomy-in-the-dysphagia-due-to-oculopharyngeal-dystrophy
#7
M ª Asunción Acosta Mérida, Joaquín Marchena Gómez, Josefa M ª Afonso Déniz
Oculopharyngeal muscular dystrophy (OPMD), is a rare hereditary myopathy that affects mainly the levator palpebrae and the constrictor pharyngeal muscles, being able to cause severe dysphagia. It can be treated effectively by surgical cricopharyngeal myotomy, as in the case presented below.
December 2016: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/27784775/expanding-the-phenotype-of-bicd2-mutations-toward-skeletal-muscle-involvement
#8
Andreas Unger, Gabriele Dekomien, Anne Güttsches, Thomas Dreps, Rudolf Kley, Martin Tegenthoff, Andreas Ferbert, Joachim Weis, Christoph Heyer, Wolfgang A Linke, Lilian Martinez-Carrera, Markus Storbeck, Brunhilde Wirth, Sabine Hoffjan, Matthias Vorgerd
OBJECTIVE: To expand the spectrum of bicaudal D, Drosophila, homologue 2 (BICD2) gene-related diseases, which so far includes autosomal dominant spinal muscular atrophy with lower extremity predominance 2 and hereditary spastic paraplegia due to mutations in the BICD2 gene. METHODS: We analyzed 2 independent German families with clinical, genetic, and muscle MRI studies. In both index patients, muscle histopathologic studies were performed. Transfection studies were carried out to analyze the functional consequences of the disease-causing mutations...
October 26, 2016: Neurology
https://www.readbyqxmd.com/read/27783661/the-high-level-of-aberrant-splicing-of-iscu-in-slow-twitch-muscle-may-involve-the-splicing-factor-srsf3
#9
Denise F R Rawcliffe, Lennart Österman, Hans Lindsten, Monica Holmberg
Hereditary myopathy with lactic acidosis (HML) is an autosomal recessive disease caused by an intronic one-base mutation in the iron-sulfur cluster assembly (ISCU) gene, resulting in aberrant splicing. The incorrectly spliced transcripts contain a 100 or 86 bp intron sequence encoding a non-functional ISCU protein, which leads to defects in several Fe-S containing proteins in the respiratory chain and the TCA cycle. The symptoms in HML are restricted to skeletal muscle, and it has been proposed that this effect is due to higher levels of incorrectly spliced ISCU in skeletal muscle compared with other energy-demanding tissues...
2016: PloS One
https://www.readbyqxmd.com/read/27747164/skeletal-myopathy-in-a-family-with-lamin-a-c-cardiac-disease
#10
Subha Ghosh, Rahul Renapurkar, Subha V Raman
BACKGROUND: The objective of this study was to evaluate patients with known hereditary cardiac conduction and myocardial disease (HCCMD) caused by a lamin A/C gene mutation for skeletal muscle involvement using magnetic resonance imaging (MRI) computed tomography (CT). METHODS: Twenty-one patients with the diagnosis of HCCMD were available for study. Of these 21, 11 had MRI scans of the lower legs. The 11 that had an MRI were compared to a control group of 17 healthy controls...
October 2016: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/27745526/prevalence-of-neuromuscular-disorders-in-qena-governorate-egypt-population-based-survey
#11
Eman M Khedr, Gharib Fawi, Mohammed Abd-Allah Abbas, Noha Abo El-Fetoh, Ahmed F Zaki, Ayman Gamea, Ghada Al Attar
BACKGROUND: Few epidemiological studies of the prevalence of neuromuscular disorders have been undertaken. The aim of the study was to estimate the prevalence of the most common types of neuromuscular disorders in Qena governorate/Egypt. METHODS: A random sample was taken from 11 districts, involving 9303 inhabitants with 57.3% urban residents and 42.7% rural residence. Patients were diagnosed using a screening questionnaire for the diagnosis of neuromuscular disorders...
December 2016: Neurological Research
https://www.readbyqxmd.com/read/27735844/porcine-zygote-injection-with-cas9-sgrna-results-in-dmd-modified-pig-with-muscle-dystrophy
#12
Hong-Hao Yu, Heng Zhao, Yu-Bo Qing, Wei-Rong Pan, Bao-Yu Jia, Hong-Ye Zhao, Xing-Xu Huang, Hong-Jiang Wei
Dystrophinopathy, including Duchenne muscle dystrophy (DMD) and Becker muscle dystrophy (BMD) is an incurable X-linked hereditary muscle dystrophy caused by a mutation in the DMD gene in coding dystrophin. Advances in further understanding DMD/BMD for therapy are expected. Studies on mdx mice and dogs with muscle dystrophy provide limited insight into DMD disease mechanisms and therapeutic testing because of the different pathological manifestations. Miniature pigs share similar physiology and anatomy with humans and are thus an excellent animal model of human disease...
October 9, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27663058/muscle-mri-of-facioscapulohumeral-dystrophy-fshd-a-growing-demand-and-a-promising-approach
#13
REVIEW
F Fatehi, E Salort-Campana, A Le Troter, D Bendahan, S Attarian
Facioscapulohumeral muscular dystrophy (FSHD), an inherited and progressive muscle disorder, is among the most common hereditary muscle disorders. From a clinical vantage point, FSHD is characterized by weakness of the facial, shoulder (often with scapular winging), arm (including biceps and triceps) and abdominal muscles. Forearm muscles are usually spared and weakness is usually asymmetrical. Over the past few decades, muscle magnetic resonance imaging (MRI) has become established as a reliable and accurate noninvasive tool for the diagnosis and assessment of progression in neuromuscular diseases, showing specific patterns of muscle involvement for a number of myopathies...
October 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27612670/skeletal-muscle-imaging-in-neuromuscular-disease
#14
REVIEW
Neil G Simon, Yu-Ichi Noto, Craig M Zaidman
Skeletal muscle imaging is increasingly used as a complement to clinical and electrophysiological examination in neuromuscular disease. Ultrasound and MRI have developed as the modalities of choice, each with strengths and limitations. Characteristic changes of muscle denervation and myopathy are seen on imaging which may delineate the nature of the disease process or help guide muscle biopsy. Identifying patterns of muscle involvement in hereditary myopathies may inform genetic testing. This review discusses skeletal muscle imaging in neuromuscular disease focusing on practical applications of current and emerging ultrasound and MRI techniques...
November 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27511179/cardiac-involvement-in-hereditary-myopathy-with-early-respiratory-failure-a-cohort-study
#15
Hannah E Steele, Elizabeth Harris, Rita Barresi, Julie Marsh, Anna Beattie, John P Bourke, Volker Straub, Patrick F Chinnery
OBJECTIVE: To assess whether hereditary myopathy with early respiratory failure (HMERF) due to the c.951434T>C; (p.Cys31712Arg) TTN missense mutation also includes a cardiac phenotype. METHOD: Clinical cohort study of our HMERF cohort using ECG, 2D echocardiogram, and cross-sectional cardiac imaging with MRI or CT. RESULTS: We studied 22 participants with the c.951434T>C; (p.Cys31712Arg) TTN missense mutation. Three were deceased. Cardiac conduction abnormalities were identified in 7/22 (32%): sustained atrioventricular tachycardia (n = 2), atrial fibrillation (n = 2), nonsustained atrial tachycardia (n = 1), premature supraventricular complexes (n = 1), and unexplained sinus bradycardia (n = 1)...
September 6, 2016: Neurology
https://www.readbyqxmd.com/read/27453230/-target-and-sandwich-signs-in-thigh-muscles-have-high-diagnostic-values-for-collagen-vi-related-myopathies
#16
Jun Fu, Yi-Ming Zheng, Su-Qin Jin, Jun-Fei Yi, Xiu-Juan Liu, He Lyn, Zhao-Xia Wang, Wei Zhang, Jiang-Xi Xiao, Yun Yuan
BACKGROUND: Collagen VI-related myopathies are autosomal dominant and recessive hereditary myopathies, mainly including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM). Muscle magnetic resonance imaging (MRI) has been widely used to diagnosis muscular disorders. The purpose of this study was to evaluate the diagnostic value of thigh muscles MRI for collagen VI-related myopathies. METHODS: Eleven patients with collagen VI gene mutation-related myopathies were enrolled in this study...
August 5, 2016: Chinese Medical Journal
https://www.readbyqxmd.com/read/27450434/white-striping-and-woody-breast-myopathies-in-the-modern-poultry-industry-a-review
#17
V A Kuttappan, B M Hargis, C M Owens
Myopathies are gaining the attention of poultry meat producers globally. White Striping (WS) is a condition characterized by the occurrence of white striations parallel to muscle fibers on breast, thigh, and tender muscles of broilers, while Woody Breast (WB) imparts tougher consistency to raw breast fillets. Histologically, both conditions have been characterized with myodegeneration and necrosis, fibrosis, lipidosis, and regenerative changes. The occurrence of these modern myopathies has been associated with increased growth rate in birds...
November 1, 2016: Poultry Science
https://www.readbyqxmd.com/read/27389816/new-aspects-of-myofibrillar-myopathies
#18
Rudolf A Kley, Montse Olivé, Rolf Schröder
PURPOSE OF REVIEW: Myofibrillar myopathies (MFMs) are hereditary muscle disorders characterized by distinct histopathological features. This review provides an overview of recent research with respect to new disease genes, clinical phenotypes, insights into pathomechanisms and therapeutic strategies. RECENT FINDINGS: Beyond the known disease genes DES, FLNC, MYOT, CRYAB, ZASP, BAG3, FHL1 and TTN, mutations in PLEC, ACTA1, HSPB8 and DNAJB6 have also been associated with a MFM phenotype...
October 2016: Current Opinion in Neurology
https://www.readbyqxmd.com/read/27376189/treatment-of-muscle-weakness-in-neuromuscular-disorders
#19
Josef Finsterer, Sinda Zarrouk-Mahjoub
INTRODUCTION: Weakness is one of the predominant clinical manifestations of neuromuscular disorders (NMDs), which strongly influences daily life, prognosis, and outcome of affected patients. One of the major therapeutic goals in NMD-patients is to completely resolve muscle weakness. Various treatment options are available and include physical therapy, electrotherapy, diet, drugs, avoidance or withdrawal of muscle-toxic and weakness-inducing agents, detoxification, stem-cell-therapy, plasma-exchange, respiratory therapy, or surgery...
July 13, 2016: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/27298745/gne-myopathy-in-turkish-sisters-with-a-novel-homozygous-mutation
#20
Gulden Diniz, Yaprak Secil, Serdar Ceylaner, Figen Tokucoglu, Sabiha Türe, Mehmet Celebisoy, Tülay Kurt İncesu, Galip Akhan
Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene. Both sisters had slightly higher levels of creatine kinase (CK) and muscle weakness. The older sister presented at 38 years of age with an inability to climb steps, weakness, and a steppage gait...
2016: Case Reports in Neurological Medicine
keyword
keyword
119384
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"