Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1-Reference-Cited by-同舟云学术

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Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1

Published:2016-01 Issue:1 Volume:26 Page:16-20
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Akman H. Orhan,Aykit Yavuz,Amuk Ozge Ceren,Malfatti Edoardo,Romero Norma B.,Maioli Maria Antonietta,Piras Rachele,DiMauro Salvatore,Marrosu Gianni

Funder

Keith B. Hayes Foundation

APBD Research Foundation

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference21 articles.

1. Type IV glycogenosis (amylopectinosis). Light and electron microscopic observations;Schochet;Arch Pathol,1970

2. A distinct form of adult polyglucosan body diseases with massive involvement of central and peripheral neuronal processes and astrocytes;Robitaille;Brain,1980

3. Adult polyglucosan body disease: natural history and key MRI findings;Mochel;Ann Neurol,2012

4. Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia;Sukigara;Neuromuscul Disord,2012

5. Identification of a novel mutation in GSY1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts;Cameron;Mol Genet Metab,2009

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1. Glycogen storage diseases;Nature Reviews Disease Primers;2023-09-07

2. Gene therapy for glycogen storage diseases;Journal of Inherited Metabolic Disease;2023-07-27

3. 251st ENMC international workshop: Polyglucosan storage myopathies 13–15 December 2019, Hoofddorp, the Netherlands;Neuromuscular Disorders;2021-05

4. Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models;International Journal of Molecular Sciences;2020-12-17

5. GBE1 ‐related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes;Journal of Inherited Metabolic Disease;2020-11-13

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