<i>GYG1</i>: A distal myopathy with polyglucosan bodies.

Nicolau, Stefan; Tracy, Jennifer A; Pisapia, David J; Tanji, Kurenai; Milone, Margherita

GYG1: A distal myopathy with polyglucosan bodies.

Nicolau, Stefan; Tracy, Jennifer A; Pisapia, David J; Tanji, Kurenai; Milone, Margherita.

Afiliação

Nicolau S; Department of Neurology Mayo Clinic Rochester Minnesota USA.
Tracy JA; Department of Neurology Mayo Clinic Rochester Minnesota USA.
Pisapia DJ; Department of Pathology Weill Cornell Medical Center New York New York USA.
Tanji K; Department of Pathology and Cell Biology Columbia University Medical Center New York New York USA.
Milone M; Department of Neurology Mayo Clinic Rochester Minnesota USA.

JIMD Rep ; 55(1): 88-90, 2020 Sep.

Article em En | MEDLINE | ID: mdl-32905144

ABSTRACT

ABSTRACT

Mutations in glycogenin-1 (GYG1) cause an adult-onset polyglucosan body myopathy. We report here a patient presenting with late-onset distal myopathy. We wish to highlight this rare clinical phenotype of GYG1-related myopathy and the histological clues leading to its diagnosis.

Palavras-chave

distal myopathy; glycogen storage disease; glycogenin1; polyglucosan body

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2020 Tipo de documento: Article

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