SEPN1-related myopathy in three patients: novel mutations and diagnostic clues. (Q40093793)

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5 March 2020

title

SEPN1-related myopathy in three patients: novel mutations and diagnostic clues (English)

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5 March 2020

1

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5 March 2020

Cinzia Bragato

2

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5 March 2020

Marina Mora

8

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5 March 2020

author name string

Flavia Blasevich

3

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5 March 2020

Elio Maccagnano

4

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5 March 2020

Franco Salerno

5

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5 March 2020

Claudia Gandioli

6

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Lucia Morandi

7

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5 March 2020

Isabella Moroni

9

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publication date

16 January 2016

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European Journal of Pediatrics

5 March 2020

published in

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5 March 2020

volume

175

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issue

8

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5 March 2020

page(s)

1113-1118

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https://scigraph.springernature.com/pub.10.1007/s00431-015-2685-3

5 March 2020

exact match

0 references

cites work

Muscle MRI: Out of the tunnel

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2685-3

Selenoprotein N in skeletal muscle: from diseases to function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2685-3

SEPN1: associated with congenital fiber-type disproportion and insulin resistance

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2685-3

Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2685-3

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2685-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2685-3

Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2685-3

A mutation in the SEPN1 selenocysteine redefinition element (SRE) reduces selenocysteine incorporation and leads to SEPN1-related myopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2685-3

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2685-3

Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2685-3

Muscle imaging in congenital myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2685-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00431-015-2685-3

Whole-body muscle magnetic resonance imaging in SEPN1-related myopathy shows a homogeneous and recognizable pattern

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26780752

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26780752