MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization.

Ripolone, Michela; Zanotti, Simona; Napoli, Laura; Ronchi, Dario; Ciscato, Patrizia; Comi, Giacomo Pietro; Moggio, Maurizio; Sciacco, Monica

Ripolone, Michela; Zanotti, Simona; Napoli, Laura; Ronchi, Dario; Ciscato, Patrizia; Comi, Giacomo Pietro; Moggio, Maurizio; Sciacco, Monica.

Afiliação

Ripolone M; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Zanotti S; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Napoli L; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Ronchi D; Dino Ferrari Center, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Ciscato P; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Comi GP; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Moggio M; Dino Ferrari Center, Department of Pathophysiology and Transplantation (DEPT), University of Milan, 20122 Milan, Italy.
Sciacco M; Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

J Pers Med ; 13(1)2023 Jan 11.

Article em En | MEDLINE | ID: mdl-36675808

Palavras-chave

MERRF; central nervous system; lipoma

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: J Pers Med Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália

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