Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy in Patients Clinically Suspected of FSHD Using Optical Genome Mapping

BACKGROUND AND OBJECTIVES: Facioscapulohumeral muscular dystrophy (FSHD) represents the third most common muscular dystrophy in the general population and is characterized by progressive and often asymmetric muscle weakness of the face, upper extremities, arms, lower leg, and hip girdle. In FSHD typ...

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Detalles Bibliográficos
Autores principales: Guruju, Naga M., Jump, Vanessa, Lemmers, Richard, Van Der Maarel, Silvere, Liu, Ruby, Nallamilli, Babi R., Shenoy, Suresh, Chaubey, Alka, Koppikar, Pratik, Rose, Rajiv, Khadilkar, Satish, Hegde, Madhuri
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664978/
https://www.ncbi.nlm.nih.gov/pubmed/38021397
http://dx.doi.org/10.1212/NXG.0000000000200107

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