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A female patient carrying a novel DMD mutation with non-random X-chromosome inactivation from a DMD family.
BMC Med Genomics
February 2024
Department of Pediatric Laboratory, Affiliated Children's Hospital of Jiangnan University (Wuxi Children's Hospital), Wuxi, China.
Article Synopsis
- The study focuses on a female proband with a novel mutation in the DMD gene, part of a family affected by pseudohypertrophic muscular dystrophy, analyzing both clinical and genetic features.
- Methods included collecting clinical data and using technologies like whole-exome sequencing (WES) and methylation analysis to investigate X-chromosome inactivation patterns.
- The results found the proband with elevated creatine kinase levels and mild calf muscle hypertrophy, revealing a pathogenic DMD variant that implicates several family members, highlighting the importance of combining genetic and clinical assessments in diagnosing muscular dystrophies.
A unique case of hemi-tongue pseudohypertrophy, necrotizing myopathy, and erythema nodosum.
Neurol Int
December 2018
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan.
A 46-year-old woman developed slowly progressive tongue weakness with a pseudohypertrophic change on the right side of her tongue. She subsequently developed weakness in her proximal lower extremities, skin erythema and a sustained increase of muscle enzymes at 11 M after the onset. A biopsy of the quadriceps muscle showed necrotizing myopathy and a skin biopsy showed erythema nodosum.
View Article and Find Full Text PDFMagnetic Resonance Assessment of Hypertrophic and Pseudo-Hypertrophic Changes in Lower Leg Muscles of Boys with Duchenne Muscular Dystrophy and Their Relationship to Functional Measurements.
PLoS One
April 2016
Department of Physical Therapy, University of Florida, Gainesville, FL, United States of America.
Introduction: The primary objectives of this study were to evaluate contractile and non-contractile content of lower leg muscles of boys with Duchenne muscular dystrophy (DMD) and determine the relationships between non-contractile content and functional abilities.
Methods: Lower leg muscles of thirty-two boys with DMD and sixteen age matched unaffected controls were imaged. Non-contractile content, contractile cross sectional area and non-contractile cross sectional area of lower leg muscles (tibialis anterior, extensor digitorum longus, peroneal, medial gastrocnemius and soleus) were assessed by magnetic resonance imaging (MRI).
Teaching neuroimages: Pseudohypertrophic cerebral cortex in end-stage Creutzfeldt-Jakob disease.
Neurology
January 2013
Magna Græcia University of Catanzaro, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.
A 43-year-old woman presented with 1 month of progressive lower limb burning sensation, blurred vision, and gait disturbance. Her mother died of Creutzfeldt-Jakob disease (CJD). Neurologic examination revealed only cerebellar ataxia.
View Article and Find Full Text PDF[Selenium and vitamin E in patients with progressive muscular dystrophy].
Ann Pediatr (Paris)
June 1990
Consultation des Pathologies Neuro-musculaires, CHRU de Caen.
Serum levels of selenium and vitamin E were prospectively studied in children with Duchenne de Boulogne muscular dystrophy of variable age and muscular status. In contrast with previous studies, we found no differences with controls. However, we believe that selenium and vitamin E, two natural antioxydants, may contribute to the pathophysiology of pseudohypertrophic muscular dystrophy.
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