Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype.

Akçakaya, Nihan Hande; Haryanyan, Garen; Mercan, Sevcan; Sozer, Nejla; Ali, Asuman; Tombul, Temel; Ozbek, Ugur; Ugur Iseri, Sibel Aylin; Yapici, Zuhal

Akçakaya, Nihan Hande; Haryanyan, Garen; Mercan, Sevcan; Sozer, Nejla; Ali, Asuman; Tombul, Temel; Ozbek, Ugur; Ugur Iseri, Sibel Aylin; Yapici, Zuhal.

Afiliação

Akçakaya NH; Council of Forensic Medicine, Kimiz sokak no:1 Bahçelievler, 34034 Istanbul, Turkey. nhakcakaya@gmail.com.
Haryanyan G; Department of genetics, Institute of Aziz Sancar Experimental Medicine (ASDETAE), Istanbul University.
Mercan S; Department of genetics, Institute of Aziz Sancar Experimental Medicine (ASDETAE), Istanbul University.
Sozer N; Department of Neurology, Dr. Sadi Konuk Training and Research Hospital, Health Sciences University Istanbul, Turkey.
Ali A; Department of Neurology, Yuksek Ihtisas Training and Research Hospital, Health Sciences University, Bursa, Turkey.
Tombul T; Department of Neurology, Yuzuncu Yil Faculty of Medicine, Yuzuncu Yil University, Van, Turkey.
Ozbek U; Department of Medical Genetics, Acibadem Faculty of Medicine, Acibadem University, Istanbul, Turkey.
Ugur Iseri SA; Department of genetics, Institute of Aziz Sancar Experimental Medicine (ASDETAE), Istanbul University.
Yapici Z; Department of child neurology, Istanbul University.

Neurol Neurochir Pol ; 53(6): 476-483, 2019.

Article em En | MEDLINE | ID: mdl-31804703

Assuntos

Doenças Raras; Adulto; Humanos; Proteínas Mitocondriais; Mutação; Fenótipo; Turquia

Palavras-chave

C19orf12; HSP; MPAN; SPG43; iron accumulation; spastic paraplegia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças Raras Tipo de estudo: Prognostic_studies Limite: Adult / Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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