Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

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Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

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Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

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Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

@en

Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

@nl

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Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

@en

Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

@nl

P1476

Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

@en

P2093

Anaïs Chanut

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Angeline Madelaine

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Edoardo Malfatti

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François Petit

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Norma B Romero

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Pascal Laforêt

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Tanya Stojkovic

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P2860

Glycogenin-1 deficiency and inactivated priming of glycogen synthesis

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

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

Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

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

Widespread RNA metabolism impairment in sporadic inclusion body myositis TDP43-proteinopathy.

GYG1 gene mutations in a family with polyglucosan body myopathy.

"Necklace" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy.

Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.

Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.

P31

scholarly article

P356

10.1002/MUS.26030

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P577

2017-12-05T00:00:00Z

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P698

29205400

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