A novel <i>PNPLA2</i> mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy.

Tavian, Daniela; Maggi, Lorenzo; Mora, Marina; Morandi, Lucia; Bragato, Cinzia; Missaglia, Sara

A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy.

Tavian, Daniela; Maggi, Lorenzo; Mora, Marina; Morandi, Lucia; Bragato, Cinzia; Missaglia, Sara.

Afiliação

Tavian D; Laboratory of Cellular Biochemistry and Molecular Biology, CRIBENS, Università Cattolica del Sacro Cuore, pz Buonarroti 30, Milan, 20145, Italy.
Maggi L; Department of Psychology, Università Cattolica del Sacro Cuore, Largo Gemelli 1, Milan, 20123, Italy.
Mora M; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
Morandi L; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
Bragato C; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
Missaglia S; Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.

Genes Dis ; 8(1): 73-78, 2021 Jan.

Article em En | MEDLINE | ID: mdl-33569515

Palavras-chave

Cardiomyopathy; Lipid metabolism; Neutral lipid storage disease with myopathy; PNPLA2; Splicing mutation; Triglyceride lipase

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article