Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9).

Hagedorn, Joshua L; Dunn, Taylor M; Bhattarai, Sajag; Stephan, Carrie; Mathews, Katherine D; Pfeifer, Wanda; Drack, Arlene V

Hagedorn, Joshua L; Dunn, Taylor M; Bhattarai, Sajag; Stephan, Carrie; Mathews, Katherine D; Pfeifer, Wanda; Drack, Arlene V.

Afiliación

Hagedorn JL; University of Iowa Carver College of Medicine, Iowa City, USA.
Dunn TM; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.
Bhattarai S; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.
Stephan C; Department of Genetics, The University of Alabama at Birmingham, Birmingham, AL, USA.
Mathews KD; Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, IA, USA.
Pfeifer W; Stead Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Drack AV; Stead Department of Pediatrics, University of Iowa, Iowa City, IA, USA.

Doc Ophthalmol ; 146(1): 7-16, 2023 02.

Article en En | MEDLINE | ID: mdl-36399172

Asunto(s)

Electrorretinografía; Distrofia Muscular de Cinturas; Adulto; Niño; Animales; Ratones; Humanos; Distrofia Muscular de Cinturas/diagnóstico; Distrofia Muscular de Cinturas/genética; Distrofia Muscular de Cinturas/epidemiología; Mutación; Fenotipo; Pentosiltransferasa/genética

Palabras clave

Amplitudes; Dystroglycanopathy; Dystrophy; Electronegative; Electroretinogram; FKRP; LGMDR9; Limbgirdle muscular dystrophy

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Distrofia Muscular de Cinturas / Electrorretinografía Tipo de estudio: Guideline / Prognostic_studies Límite: Adult / Animals / Child / Humans Idioma: En Revista: Doc Ophthalmol Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos

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