Grand paternal inheritance of X-linked myotubular myopathy due to mosaicism, and identification of necklace fibers in an asymptomatic male.

Hedberg-Oldfors, Carola; Visuttijai, Kittichate; Topa, Alexandra; Tulinius, Mar; Oldfors, Anders

Hedberg-Oldfors, Carola; Visuttijai, Kittichate; Topa, Alexandra; Tulinius, Mar; Oldfors, Anders.

Afiliação

Hedberg-Oldfors C; Department of Pathology and Genetics, University of Gothenburg, Gothenburg, Sweden. Electronic address: carola.oldfors@gu.se.
Visuttijai K; Department of Pathology and Genetics, University of Gothenburg, Gothenburg, Sweden.
Topa A; Department of Clinical Pathology and Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden.
Tulinius M; Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.
Oldfors A; Department of Pathology and Genetics, University of Gothenburg, Gothenburg, Sweden.

Neuromuscul Disord ; 27(9): 843-847, 2017 Sep.

Article em En | MEDLINE | ID: mdl-28622964

Assuntos

Mosaicismo; Mutação/genética; Miopatias Congênitas Estruturais/genética; Herança Paterna/genética; Feminino; Genes Ligados ao Cromossomo X; Humanos; Recém-Nascido; Masculino

Palavras-chave

Centronuclear myopathy; MTM1; Myotubular myopathy; Myotubularin 1; Necklace fiber; Paternal transmission; X-linked

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miopatias Congênitas Estruturais / Herança Paterna / Mosaicismo / Mutação Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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