Novel p.Asp27Glu ACTA1 variant features congenital myopathy with finger flexor weakness, cardiomyopathy, and cardiac conduction defects.

Mulvany-Robbins, Bridget; Putko, Brendan; Schmitt, Laura; Oudit, Gavin; Phan, Cecile; Beecher, Grayson

Mulvany-Robbins, Bridget; Putko, Brendan; Schmitt, Laura; Oudit, Gavin; Phan, Cecile; Beecher, Grayson.

Afiliación

Mulvany-Robbins B; Division of Neurology, Department of Medicine, University of Alberta, 7-125 Clinical Sciences Building 11350 83rd Avenue NW, Edmonton, AB, Canada T6G 2G3.
Putko B; Division of Neurology, Department of Medicine, University of Alberta, 7-125 Clinical Sciences Building 11350 83rd Avenue NW, Edmonton, AB, Canada T6G 2G3.
Schmitt L; Section of Neuropathology, Department of Laboratory Medicine and Pathology, University of Alberta, 8440 112St NW, Edmonton, AB, Canada T6G 2B7.
Oudit G; Division of Cardiology, Department of Medicine, Mazankowski Alberta Health Institute, 11220 83 Ave NW, Edmonton, AB T6G 2B7.
Phan C; Division of Neurology, Department of Medicine, University of Alberta, 7-125 Clinical Sciences Building 11350 83rd Avenue NW, Edmonton, AB, Canada T6G 2G3.
Beecher G; Division of Neurology, Department of Medicine, University of Alberta, 7-125 Clinical Sciences Building 11350 83rd Avenue NW, Edmonton, AB, Canada T6G 2G3. Electronic address: beecher@ualberta.ca.

Neuromuscul Disord ; 33(7): 546-550, 2023 07.

Article en En | MEDLINE | ID: mdl-37315422

Asunto(s)

Cardiomiopatías; Miopatías Nemalínicas; Miopatías Estructurales Congénitas; Adulto; Anciano; Femenino; Humanos; Recién Nacido; Masculino; Persona de Mediana Edad; Adulto Joven; Actinas/genética; Trastorno del Sistema de Conducción Cardíaco/complicaciones; Trastorno del Sistema de Conducción Cardíaco/patología; Cardiomiopatías/patología; Madres; Debilidad Muscular/patología; Músculo Esquelético/patología; Mutación; Miopatías Nemalínicas/patología; Miopatías Estructurales Congénitas/patología

Palabras clave

ACTA1; Cardiomyopathy; Finger flexor weakness; Myopathy

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Miopatías Nemalínicas / Miopatías Estructurales Congénitas / Cardiomiopatías Límite: Adult / Aged / Female / Humans / Male / Middle aged / Newborn Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2023 Tipo del documento: Article

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