Spinal muscular atrophy with predominant lower extremity (SMA-LED) with no signs other than pure motor symptoms at the intersection of multiple overlap syndrome.

Tekin, Hande Gazeteci; Edem, Pinar; Özyilmaz, Berk

Tekin, Hande Gazeteci; Edem, Pinar; Özyilmaz, Berk.

Afiliación

Tekin HG; Izmir Bakircay University Cigli Training and Research Hospital, Department of Pediatrics, Division of Pediatric Neurology, Izmir, Turkey. Electronic address: hande.tekin@bakircay.edu.tr.
Edem P; Izmir Bakircay University Cigli Training and Research Hospital, Department of Pediatrics, Division of Pediatric Neurology, Izmir, Turkey.
Özyilmaz B; Tepecik Training and Research Hospital, Genetic Disease Center, Turkey. Electronic address: drberk@gmail.com.

Brain Dev ; 44(4): 294-298, 2022 Apr.

Article en En | MEDLINE | ID: mdl-34974950

Asunto(s)

Dineínas Citoplasmáticas/genética; Atrofia Muscular Espinal; Trastornos Neurológicos de la Marcha/etiología; Trastornos Neurológicos de la Marcha/fisiopatología; Humanos; Extremidad Inferior/fisiopatología; Atrofia Muscular Espinal/complicaciones; Atrofia Muscular Espinal/diagnóstico; Atrofia Muscular Espinal/genética; Atrofia Muscular Espinal/fisiopatología

Palabras clave

DYNC1H1; Gowers' sign; Lordosis; SMA-LED

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atrofia Muscular Espinal / Dineínas Citoplasmáticas Tipo de estudio: Diagnostic_studies / Etiology_studies Límite: Humans Idioma: En Revista: Brain Dev Año: 2022 Tipo del documento: Article

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