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About 693 results

ALLMedicine™ Limb-girdle Muscular Dystrophy Center

Research & Reviews  269 results

Sex differences in the involvement of skeletal and cardiac muscles in myopathic Ano5-/-...
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...

Compound heterozygous c.598_612del and c.1746-20C > G CAPN3 genotype cause autosomal re...
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...

Validity of skeletal muscle ultrasound as a screening tool in the assessment of patient...
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...

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Clinicaltrials.gov  3 results

Clinical, Immunological, Morphological and Genetic Characteristics of Patients With Dysferlinopathy in the RF
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...

Heart Imaging in Children With Muscular Dystrophy
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...

Cardiac Arrhythmias and Sudden Death in Patients Affected With Laminopathies
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-...

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News  5 results

AAN Guideline Provides Recommendations for Diagnosing Rare Forms of Muscular Dystrophy
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.

Consider Muscular Dystrophies Even in Older Patients
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.

Mutation Causes Muscular Dystrophy With Cognitive Impairment
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. ...

Mutation Causes Muscular Dystrophy With Cognitive Impairment
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. ...

In Kids, Seek Neurologic Clues Before Transplant
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.

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