Cargando…

DMD‐related muscular dystrophy in Cameroon: Clinical and genetic profiles

BACKGROUND: Most of the previous studies on Duchenne Muscular Dystrophy (DMD) were conducted in Caucasian, Asian, and Arab populations. Therefore, little is known about the features of this disease in Africans. In this study, we aimed to determine the clinical characteristics of DMD, and the common...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wonkam‐Tingang, Edmond, Nguefack, Séraphin, Esterhuizen, Alina I., Chelo, David, Wonkam, Ambroise
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434738/ https://www.ncbi.nlm.nih.gov/pubmed/32543101 http://dx.doi.org/10.1002/mgg3.1362

Ejemplares similares

Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa)
por: Kengne Kamga, Karen, et al.
Publicado: (2020)

Hearing Impairment Overview in Africa: the Case of Cameroon
por: Wonkam Tingang, Edmond, et al.
Publicado: (2020)

Knowledge and Challenges Associated With Hearing Impairment in Affected Individuals From Cameroon (Sub-Saharan Africa)
por: Wonkam-Tingang, Edmond, et al.
Publicado: (2021)

Hearing loss in Africa: current genetic profile
por: Adadey, Samuel Mawuli, et al.
Publicado: (2021)

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon
por: Tingang Wonkam, Edmond, et al.
Publicado: (2019)

Explanatory models for the cause of Fragile X Syndrome in rural Cameroon
por: Kengne Kamga, Karen, et al.
Publicado: (2021)

Negotiating political power and stigma around fragile X Syndrome in a rural village in Cameroon: A tale of a royal family and a community
por: Kengne Kamga, Karen, et al.
Publicado: (2021)

Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment
por: Aboagye, Elvis Twumasi, et al.
Publicado: (2023)

Noonan Syndrome in South Africa: Clinical and Molecular Profiles
por: Tekendo-Ngongang, Cedrik, et al.
Publicado: (2019)

Lived Experiences of Fragile X Syndrome Caregivers: A Scoping Review of Qualitative Studies
por: Kamga, Karen Kengne, et al.
Publicado: (2020)

Enhancing Genetic Medicine: Rapid and Cost-Effective Molecular Diagnosis for a GJB2 Founder Mutation for Hearing Impairment in Ghana
por: M. Adadey, Samuel, et al.
Publicado: (2020)

Symptomatic therapy of Duchenne Muscular Dystrophy (DMD)
por: Rüdel, Reinhardt
Publicado: (2012)

Vascular therapy for Duchenne muscular dystrophy (DMD)
por: Thapa, Sangharsha, et al.
Publicado: (2023)

Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden
por: Adadey, Samuel Mawuli, et al.
Publicado: (2020)

Duchenne muscular dystrophy (DMD) cardiomyocyte-secreted exosomes promote the pathogenesis of DMD-associated cardiomyopathy
por: Gartz, Melanie, et al.
Publicado: (2020)

Transition from childhood to adulthood in Duchenne muscular dystrophy (DMD)
por: Rodger, Sunil, et al.
Publicado: (2012)

Duchenne Muscular Dystrophy (DMD) Protein-Protein Interaction Mapping
por: REZAEI TAVIRANI, Mostafa, et al.
Publicado: (2017)

Evolutionary history of sickle-cell mutation: implications for global genetic medicine
por: Esoh, Kevin, et al.
Publicado: (2021)

Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment
por: Wonkam-Tingang, Edmond, et al.
Publicado: (2020)

Cell-based analysis of CLIC5A and SLC12A2 variants associated with hearing impairment in two African families
por: Adadey, Samuel Mawuli, et al.
Publicado: (2022)

Clinical characteristics and risk factors of relative systemic hypertension and hypertension among sickle cell patients in Cameroon
por: Nguweneza, Arthemon, et al.
Publicado: (2022)

Assessment of diaphragmatic thickness by ultrasonography in Duchenne muscular dystrophy (DMD) patients
por: Laviola, Marianna, et al.
Publicado: (2018)

Becker muscular dystrophy caused by exon 2-truncating mutation of DMD
por: Ikeda, Tetsuhiko, et al.
Publicado: (2019)

Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy
por: Hilton, Stephanie, et al.
Publicado: (2023)

Screening of Dystrophin Gene Deletions in Egyptian Patients with DMD/BMD Muscular Dystrophies
por: Effat, Laila K., et al.
Publicado: (2000)

The future of sickle cell disease therapeutics rests in genomics
por: Wonkam, Ambroise
Publicado: (2023)

Low hepatitis B vaccine uptake among surgical residents in Cameroon
por: Noubiap, Jean Jacques N, et al.
Publicado: (2014)

A novel canine model for Duchenne muscular dystrophy (DMD): single nucleotide deletion in DMD gene exon 20
por: Mata López, Sara, et al.
Publicado: (2018)

Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon
por: Wonkam, Ambroise, et al.
Publicado: (2021)

Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients
por: Lu, Xinguo, et al.
Publicado: (2021)

Reduced bone mineral density in adolescents with Duchenne Muscular Dystrophy (DMD) and scoliosis
por: Tsaknakis, K., et al.
Publicado: (2022)

Targeting Duchenne muscular dystrophy by skipping DMD exon 45 with base editors
por: Gapinske, Michael, et al.
Publicado: (2023)

Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection
por: Esoh, Kevin K., et al.
Publicado: (2021)

Systemic deletion of DMD exon 51 rescues clinically severe Duchenne muscular dystrophy in a pig model lacking DMD exon 52
por: Stirm, Michael, et al.
Publicado: (2023)

Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations
por: Okubo, Mariko, et al.
Publicado: (2016)

SAR1a promoter polymorphisms are not associated with fetal hemoglobin in patients with sickle cell disease from Cameroon
por: Pule, Gift Dineo, et al.
Publicado: (2017)

Chronic Hypoxia Impairs Muscle Function in the Drosophila Model of Duchenne's Muscular Dystrophy (DMD)
por: Mosqueira, Matias, et al.
Publicado: (2010)

Ventilatory Chemosensory Drive Is Blunted in the mdx Mouse Model of Duchenne Muscular Dystrophy (DMD)
por: Mosqueira, Matias, et al.
Publicado: (2013)

Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies
por: Ling, Chao, et al.
Publicado: (2019)

Identification of Two Novel Variants of the DMD Gene in Chinese Families with Duchenne Muscular Dystrophy
por: Wu, Jiangfen, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_5d3dr30aqjeio3socrj9dnrhuo