Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. (Q36495058)

14 August 2017

Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. (English)

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14 August 2017

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8

Salvatore DiMauro

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14 August 2017

H Orhan Akman

1

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14 August 2017

Yavuz Aykit

2

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14 August 2017

Ozge Ceren Amuk

3

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14 August 2017

Edoardo Malfatti

4

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14 August 2017

Norma B Romero

5

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14 August 2017

Maria Antonietta Maioli

6

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14 August 2017

Rachele Piras

7

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14 August 2017

Gianni Marrosu

9

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14 August 2017

language of work or name

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10 November 2015

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14 August 2017

Neuromuscular Disorders

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14 August 2017

26

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14 August 2017

1

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14 August 2017

16-20

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Polyglucosan storage myopathies

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

A new muscle glycogen storage disease associated with glycogenin-1 deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora'

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

Muscle pathology and whole-body MRI in a polyglucosan myopathy associated with a novel glycogenin-1 mutation.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

Juvenile-onset permanent weakness in muscle phosphofructokinase deficiency

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4724519

Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation

21 October 2018

1 reference

12 December 2020

Surprises of genetic engineering: a possible model of polyglucosan body disease

1 reference

12 December 2020

Type IV glycogenosis (amylopectinosis). Light and electron microscopic observations

1 reference

12 December 2020

Deep intronic GBE1 mutation in manifesting heterozygous patients with adult polyglucosan body disease

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12 December 2020

Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls

1 reference

12 December 2020

Muscle phosphofructokinase deficiency: abnormal polysaccharide in a case of late-onset myopathy

1 reference

12 December 2020

10.1016/J.NMD.2015.10.012

Identifiers

DOI

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14 August 2017

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14 August 2017

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