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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.
Hoffman syndrome with the classic sign of myoedema and an unusual finding of systolic heart failure.
BMJ Case Rep
October 2023
General Medicine, Christian Medical College and Hospital Vellore, Vellore, Tamil Nadu, India.
A man in his 20s presented with a 6-year history of calf muscle hypertrophy, proximal muscle weakness and muscle cramps. Along with this, he also had patchy hair loss, facial puffiness and slurring of speech. On examination, he had mild symmetrical proximal muscle weakness, a delayed relaxation phase of his deep tendon reflexes and a rare neurological sign of myoedema.
View Article and Find Full Text PDFDyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis.
J Neuromuscul Dis
July 2023
University of British Columbia (UBC) Department of Anesthesiology, Pharmacology & Therapeutics, Vancouver, Canada.
Background: Muscular dystrophies (MDs) are characterized by chronic muscle wasting but also poorly understood metabolic co-morbidities. We have recently shown that Duchenne MD (DMD) patients, dogs and asymptomatic carriers are affected by a new form of dyslipidemia that may exacerbate muscle damage.
Objective: We aimed to perform a systematic review and meta-analysis for evidence that other types of MDs are associated with dyslipidemia compared to healthy controls.
Myoedema with pseudohypertrophic hypothyroid myopathy (Hoffman's syndrome).
Pract Neurol
August 2021
Department of Neurology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Article Synopsis
- Myoedema is an often overlooked neurological sign that can aid in diagnosing metabolic or endocrine-related muscle diseases.
- When myoedema is identified alongside pseudo-hypertrophy, it strongly suggests hypothyroid myopathy.
- Recognizing myoedema can help avoid unnecessary tests and streamline the diagnosis process.
Exon skipping in Duchenne Muscle dystrophy due to a silent p.Ser443= mutation in the DMD gene.
J Clin Neurosci
June 2020
Department of Neurology, Martin-Luther-University Halle-Wittenberg, Germany.
Duchenne Muscle dystrophy (DMD) is a X-linked inherited disease predominantly caused by severe mutations in DMD gene leading to absence of dystrophin protein. Here we report a 14-year-old Mongolian boy suffering from proximal muscle weakness, pseudohypertrophic deltoid and gastrocnemius muscles since early childhood. Lactate dehydrogenase (LDH) and creatine kinase (CK) levels were elevated.
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