ALLMedicine™ Limb-girdle Muscular Dystrophy Center
Research & Reviews 269 results
https://doi.org/10.1007/s00296-021-05063-3 10.1097/RHU.0000000000001214 10.2147/TCRM.S197941 10.1002/art.27572 10.1212/NXI.0000000000000523 10.1093/rheumatology/kew386 10.1212/NXI.0000000000000124 10.1002/ana.24902 10.3233/JND-170282 10.1186/s13075-019-2093-6 10.1136/annrheumdis-2018-213518 10.4103/injr.injr_95_20 10.4103/injr.injr_40_19 10.1136/annrheumdis-2013-204424 10.1016/j.semarthrit.2020.10.014 10.4103/injr.injr_102_20 10.1097/MD.0000000000000028 10.1007/s00415-021-10621-7 10.1097/MD.0000000000005280 10.1080/03009742.2019.1672782 10.1016/j.jaut.2021.102691 10.1007/s00296-021-04897-1 10.1093/rheumatology/keaa821 10.1002/acr.23113 10.3899/jrheum.160871 10.2340/00015555-3645 10.1016/j.annder.2018.12.010 10.1007/s10067-017-3831-2 10.1007/s10067-019-04756-2 10.1007/s00296-020-04695-1
Rheumatology International; Gupta L, Nune A et. al.
Jan 16th, 2022 - This study aimed to determine the prevalence and clinical characteristics of anti-HMGCR antibodies in idiopathic inflammatory myositis (IIM) at a tertiary care centre in northern India. Data (adult and children) were retrieved from the MyoCite dat...
https://doi.org/10.1152/ajpcell.00350.2021
American Journal of Physiology. Cell Physiology; Foltz S, Wu F et. al.
Jan 13th, 2022 - Limb-girdle muscular dystrophy R12 (LGMD-R12) is caused by recessive mutations in the Anoctamin-5 gene (ANO5, TMEM16E). Although ANO5 myopathy is not X-chromosome linked, we performed a meta-analysis of the research literature and found that three...
https://doi.org/10.1007/s10048-021-00681-2 10.1097/WCO.0000000000000375 10.1002/mus.26077 10.1038/72822 10.1016/j.nmd.2017.05.017 10.1086/513889 10.1007/s00438-011-0603-6 10.1016/j.nmd.2018.04.006 10.1016/j.nmd.2014.12.006 10.1002/clc.22193 10.1016/j.jacc.2004.08.058 10.1111/jcmm.16978 10.3389/fnmol.2020.00154 10.1038/s41598-020-59517-y 10.1212/NXG.0000000000000015 10.1007/s10048-020-00623-4 10.1016/j.nmd.2008.07.009 10.1016/j.nmd.2019.12.004 10.1155/2015/805172 10.1074/jbc.M007493200 10.1006/jmbi.2001.5053 10.1016/j.nmd.2008.03.010 10.1093/hmg/ddq105 10.1016/s0014-5793(97)01108-3 10.1186/s13023-020-01445-1 10.1097/00019052-200010000-00002 10.1016/j.nmd.2011.03.005 10.1002/(sici)1096-8628(19990219)82:5<392::aid-ajmg7>3.0.co;2-0
Neurogenetics Huang K, Li QX et. al.
Jan 5th, 2022 - Limb-girdle muscular dystrophy (LGMD) is a group of clinically and genetically heterogeneous neuromuscular disorders. LGMD-R7, which is caused by telethonin gene (TCAP) mutations, is one of the rarest forms of LGMD, and only a small number of LGMD...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8645139
BMC Musculoskeletal Disorders; Siavrienė E, Petraitytė G et. al.
Dec 6th, 2021 - Autosomal recessive limb-girdle muscular dystrophy-1 (LGMDR1), also known as calpainopathy, is a genetically heterogeneous disorder characterised by progression of muscle weakness. Homozygous or compound heterozygous variants in the CAPN3 gene are...
https://doi.org/10.1016/j.jocn.2021.10.039
Journal of Clinical Neuroscience : Official Journal of Th... Ibrahim RM, Amr Abdel-Monem M et. al.
Nov 29th, 2021 - This cross-sectional study measured the sensitivity and specificity of muscle ultrasound (MUS) in the assessment of patients with suspected limb-girdle muscular dystrophy (LGMD). Sixty patients with suspected LGMD from the Neuromuscular Unit, Myol...
Clinicaltrials.gov 3 results
https://clinicaltrials.gov/ct2/show/NCT04824040
Apr 2nd, 2021 - A single-center, cohort clinical study. Subjects of both sexes aged 18 to 65 inclusive with genetically confirmed diagnosis of limb-girdle muscular dystrophy type R2, who have signed the written informed consent form for this study. The control an...
https://clinicaltrials.gov/ct2/show/NCT01633242
Sep 13th, 2019 - Cardiomyopathy causes significant morbidity and mortality in multiple forms of muscular dystrophy affecting children, including Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD) and subtypes of autosomal recessive limb-girdle musc...
https://clinicaltrials.gov/ct2/show/NCT02601066
Apr 6th, 2016 - The LMNA related muscular dystrophies are monogenic progressive neuromuscular disorders. Affected pediatric patients can present at birth or in childhood and are classified as either congenital muscular dystrophy (LMNA-CMD), congenital onset Limb-...
News 5 results
https://www.mdedge.com/neurology/article/88362/movement-disorders/aan-guideline-provides-recommendations-diagnosing-rare
Oct 31st, 2014 - A new guideline from the American Academy of Neurology (AAN) and the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM) provides recommendations about how physicians should evaluate a patient to determine which genetic te.
https://www.mdedge.com/rheumatology/article/54766/rheumatology/consider-muscular-dystrophies-even-older-patients
Sharon Worcester
Jun 5th, 2012 - DESTIN, FLA. – An increasing number of patients are presenting with muscular dystrophy in adulthood.
https://www.staging.medscape.com/viewarticle/738732
Mar 10th, 2011 - March 10, 2011 — Researchers have provided the first genetic evidence to indicate that the dystroglycan-encoding gene (DAG1) is directly involved in the development of limb-girdle muscular dystrophy with associated cognitive dysfunction. Kevin P. ...
https://www.medscape.com/viewarticle/738732
Mar 10th, 2011 - March 10, 2011 — Researchers have provided the first genetic evidence to indicate that the dystroglycan-encoding gene (DAG1) is directly involved in the development of limb-girdle muscular dystrophy with associated cognitive dysfunction. Kevin P. ...
https://www.mdedge.com/cardiology/article/42317/interventional-cardiology-surgery/kids-seek-neurologic-clues-transplant
Michele G. Sullivan
PITTSBURGH — Preoperative neurologic and genetic work-ups may detect a previously unsuspected cause of cardiac disease in children about to receive a heart transplant, Dr. Debabrata Ghosh reported in a poster at the annual meeting of the Child Neu.
