Results 91 to 100 of about 536,446 (168)

Muscular Dystrophy in a Dog Resembling Human Becker Muscular Dystrophy.

open access: yes, 2014
A 3-year-old, male Labrador retriever dog was presented with clinical signs of progressive exercise intolerance, bilateral elbow extension, rigidity of the forelimbs, hindlimb flexion and kyphosis. Microscopical examination of muscle tissue showed marked
PAPPARELLA, SERENELLA   +7 more
core   +1 more source

Molecular Diagnosis of Duchenne/Becker muscular dystrophy in a family with no pathological antecedents of the disease

open access: yesMedisur, 2018
Foundation: Duchenne and  Becker muscular dystrophies are progressive neuromuscular diseases with a pattern of recessive inherited link to chromosome X and caused by mutations in the gene which codifies for dystrophin.
Ivonne Martín Hernández   +4 more
doaj  

Improved diagnosis of becker muscular dystrophy by dystrophin testing

open access: yes, 1989
We assessed the quantity (relative cellular abundance) and quality (approximate molecular weight) of dystrophin in muscle biopsies from 97 patients with a diagnosis of possible Becker muscular dystrophy. Fifty-four (all male) had dystrophin abnormalities
Angelini C.   +3 more
core   +1 more source

Becker′s Muscular Dystrophy-A Case Report

open access: yesAnnals of Indian Academy of Neurology, 1998
A case of Becker′s Muscular dystrophy (BMD) in a 26-year-old male is reported. Muscle biopsy immunohistochemical staining showed absence of labelling for dystrophin along the sacrolemmal membrane in majority of the fibres.
Rajendran P   +3 more
doaj  

Acute hepatotoxicity of intravenous amiodarone in a Becker muscular dystrophy patient with decompensated heart failing and ABCB4 gene mutation: as assessed for causality using the updated RUCAM

open access: yesJournal of Cardiothoracic Surgery
Background Cardiac dysfunction, including arrhythmias, may be one of the main clinical manifestations of Becker muscular dystrophy (BMD). Amiodarone is widely used to treat arrhythmia.
Hui Shi   +3 more
doaj   +1 more source

Duchenne muscular dystrophy: Symptoms, management and prognosis [PDF]

open access: yes, 2015
Samuel Alexandre Almeida Honório (Editor).A child with Duchenne Muscular Dystrophy (DMD) faces a childhood and adolescence with a disability that develops gradually. This book intends to expose the problems of children with DMD.
Honório, Samuel
core   +1 more source

An investigation into the effects of dystrophin on the lateral mobility of muscle membrane components. [PDF]

open access: yes, 1999
Dystrophin is the product of the Duchenne Muscular Dystrophy gene locus, whose absence results in progressive skeletal muscle breakdown. Despite considerable work on the localisation of dystrophin and its associated complex, its role in muscle function ...
Dutton, A.L., Dutton, Anna Louise
core  

Clinical and molecular characterization of Becker muscular dystrophy

open access: yes, 2023
reservedBackground: Becker muscular dystrophy (BMD) is an X-linked muscle disease caused by mutations in the DMD gene, encoding the dystrophin protein. The clinical picture of this progressive neuromuscular disease is variable, including myalgias, limb ...
PETROSINO, ANGELA
core  

A novel biomarker of fibrofatty replacement in dystrophinopathies identified by integrating transcriptome, magnetic resonance imaging, and pathology data

open access: yesJournal of Cachexia, Sarcopenia and Muscle
Background We aimed to analyse genome‐wide transcriptome differences between Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) patients and identify biomarkers that correlate well with muscle magnetic resonance imaging (MRI) and ...
Zhihao Xie   +16 more
doaj   +1 more source

J Child Neurol [PDF]

open access: yes
In this retrospective cohort study, we characterize the health profile of preterm males with Duchenne muscular dystrophy. Major clinical milestones (ambulation cessation, assisted ventilation use, and onset of left ventricular dysfunction) and ...

core  

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