Autosomal recessive ADCY5-Related dystonia and myoclonus: Expanding the genetic spectrum of ADCY5-Related movement disorders.

Bohlega, Saeed A; Abou-Al-Shaar, Hussam; AlDakheel, Amaal; Alajlan, Huda; Bohlega, Balsam S; Meyer, Brian F; Monies, Dorota; Cupler, Edward J; Al-Saif, Amr M

Bohlega, Saeed A; Abou-Al-Shaar, Hussam; AlDakheel, Amaal; Alajlan, Huda; Bohlega, Balsam S; Meyer, Brian F; Monies, Dorota; Cupler, Edward J; Al-Saif, Amr M.

Afiliación

Bohlega SA; Movement Disorder Program, Division of Neurology, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia. Electronic address: boholega@kfshrc.edu.sa.
Abou-Al-Shaar H; Department of Neurosurgery, Hofstra Northwell School of Medicine, Manhasset, NY, USA.
AlDakheel A; Movement Disorder Program, Division of Neurology, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Alajlan H; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Bohlega BS; Movement Disorder Program, Division of Neurology, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Meyer BF; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Cupler EJ; Division of Neurology, Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Jeddah, Saudi Arabia.
Al-Saif AM; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Department of Biomedical Research, King Fahad Specialist Hospital, Dammam, Saudi Arabia.

Parkinsonism Relat Disord ; 64: 145-149, 2019 07.

Article en En | MEDLINE | ID: mdl-30975617

Asunto(s)

Adenilil Ciclasas/genética; Distonía/genética; Trastornos del Movimiento/genética; Mioclonía/genética; Adolescente; Niño; Femenino; Estudios de Asociación Genética; Genotipo; Humanos; Masculino; Mutación Missense; Linaje; Adulto Joven

Palabras clave

ADCY5; Adenylyl cyclase 5; Autosomal recessive; Dystonia; Genotype; Mutation; Myoclonus; Phenotype

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Adenilil Ciclasas / Distonía / Trastornos del Movimiento / Mioclonía Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Parkinsonism Relat Disord Asunto de la revista: NEUROLOGIA Año: 2019 Tipo del documento: Article Pais de publicación: Reino Unido

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