GYG1: A distal myopathy with polyglucosan bodies

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

doi:10.1002/jmd2.12129

GYG1: A distal myopathy with polyglucosan bodies

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

Neurology

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

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.

Original language	English (US)
Pages (from-to)	88-90
Number of pages	3
Journal	JIMD Reports
Volume	55
Issue number	1
DOIs	https://doi.org/10.1002/jmd2.12129
State	Published - Jan 1 2020

Keywords

distal myopathy
glycogen storage disease
glycogenin-1
polyglucosan body

ASJC Scopus subject areas

Internal Medicine
Endocrinology, Diabetes and Metabolism
Biochemistry, Genetics and Molecular Biology (miscellaneous)

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10.1002/jmd2.12129

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title = "GYG1: A distal myopathy with polyglucosan bodies",

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.",

keywords = "distal myopathy, glycogen storage disease, glycogenin-1, polyglucosan body",

author = "Stefan Nicolau and Tracy, {Jennifer A.} and Pisapia, {David J.} and Kurenai Tanji and Margherita Milone",

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T2 - A distal myopathy with polyglucosan bodies

AU - Nicolau, Stefan

AU - Tracy, Jennifer A.

AU - Pisapia, David J.

AU - Tanji, Kurenai

AU - Milone, Margherita

PY - 2020/1/1

Y1 - 2020/1/1

N2 - 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.

AB - 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.

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KW - glycogen storage disease

KW - glycogenin-1

KW - polyglucosan body

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GYG1: A distal myopathy with polyglucosan bodies

Abstract

Keywords

ASJC Scopus subject areas

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