Two desmin gene mutations associated with myofibrillar myopathies in Polish families (Q34776342)

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26 February 2020

title

Two desmin gene mutations associated with myofibrillar myopathies in Polish families (English)

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26 February 2020

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26 February 2020

Anna Potulska-Chromik

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26 February 2020

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26 February 2020

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26 February 2020

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26 February 2020

Justyna Karolczak

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26 February 2020

Mariusz Berdynski

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26 February 2020

Slawomir Filipek

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26 February 2020

Przemyslaw Miszta

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26 February 2020

Anna Kaminska

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26 February 2020

language of work or name

English

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publication date

26 December 2014

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26 February 2020

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26 February 2020

volume

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issue

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26 February 2020

page(s)

e115470

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Creative Commons Attribution 4.0 International

26 February 2020

start time

26 December 2014

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April 2022 Public Data File from Crossref

copyrighted

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cites work

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Mutation in BAG3 causes severe dominant childhood muscular dystrophy

7 July 2018

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In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy

7 July 2018

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Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation

7 July 2018

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Zasp/Cypher internal ZM-motif containing fragments are sufficient to co-localize with alpha-actinin--analysis of patient mutations.

7 July 2018

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7 July 2018

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Mutations in myotilin cause myofibrillar myopathy

7 July 2018

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Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment

7 July 2018

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Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

7 July 2018

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Conserved segments 1A and 2B of the intermediate filament dimer: their atomic structures and role in filament assembly

7 July 2018

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A dysfunctional desmin mutation in a patient with severe generalized myopathy

7 July 2018

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Muscle-specific locus control region activity associated with the human desmin gene

7 July 2018

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A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

7 July 2018

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7 July 2018

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21 January 2018

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12 December 2020

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12 December 2020

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A novel heterozygous deletion-insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy

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12 December 2020

10.1371/JOURNAL.PONE.0115470

Identifiers

DOI

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26 February 2020

0 references

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26 February 2020

PubMed publication ID

25541946

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