Congenital myopathy and epidermolysis bullosa due to PLEC variant.

Walter, Maggie C; Reilich, Peter; Krause, Sabine; Hiebeler, Miriam; Gehling, Stefanie; Goebel, Hans H; Schoser, Benedikt; Abicht, Angela

Walter, Maggie C; Reilich, Peter; Krause, Sabine; Hiebeler, Miriam; Gehling, Stefanie; Goebel, Hans H; Schoser, Benedikt; Abicht, Angela.

Afiliação

Walter MC; Department of Neurology, Friedrich-Baur-Institute LMU Klinikum, Munich, Germany. Electronic address: maggie.walter@lrz.uni-muenchen.de.
Reilich P; Department of Neurology, Friedrich-Baur-Institute LMU Klinikum, Munich, Germany.
Krause S; Department of Neurology, Friedrich-Baur-Institute LMU Klinikum, Munich, Germany.
Hiebeler M; Department of Neurology, Friedrich-Baur-Institute LMU Klinikum, Munich, Germany.
Gehling S; Medical Genetics Centre, Munich, Germany.
Goebel HH; Department of Neuropathology, Charité University, Berlin, and Johannes-Gutenberg University, Mainz, Germany.
Schoser B; Department of Neurology, Friedrich-Baur-Institute LMU Klinikum, Munich, Germany.
Abicht A; Department of Neurology, Friedrich-Baur-Institute LMU Klinikum, Munich, Germany; Medical Genetics Centre, Munich, Germany.

Neuromuscul Disord ; 31(11): 1212-1217, 2021 11.

Article em En | MEDLINE | ID: mdl-34702657

Assuntos

Epidermólise Bolhosa Simples/genética; Miotonia Congênita/genética; Plectina/genética; Adulto; Homozigoto; Humanos; Masculino; Mutação; Linhagem; Fenótipo

Palavras-chave

Congenital myopathy; Epidermolysis bullosa; Plectinopathy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epidermólise Bolhosa Simples / Plectina / Miotonia Congênita Tipo de estudo: Guideline Limite: Adult / Humans / Male Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article

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