Two desmin gene mutations associated with myofibrillar myopathies in Polish families

10.1371/journal.pone.0115470

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Main Authors:	Fichna J.P., Karolczak J., Potulska-Chromik A., Miszta P., Berdynski M., Sikorska A., Filipek S., Redowicz M.J., Kaminska A., Zekanowski C.
Other Authors:	BIOMEDICAL ENGINEERING
Format:	Article
Published:	2019
Subjects:	alpha actinin cadherin desmin M cadherin myosin heavy chain nucleotide unclassified drug adult Article bioinformatics cell nucleus cellular distribution clinical article controlled study desminopathy family study female gene deletion gene mutation human human tissue male middle aged missense mutation molecular dynamics muscle biopsy muscle fibril myofibrillar myopathy myopathy Poland protein aggregation protein expression protein folding protein localization protein structure simulation young adult chemistry genetic association genetics metabolism nucleotide sequence pathology pedigree skeletal muscle Adult Desmin DNA Mutational Analysis Female Genetic Association Studies Humans Male Middle Aged Molecular Dynamics Simulation Muscle Fibers, Skeletal Mutation, Missense Myopathies, Structural, Congenital Pedigree Sequence Deletion Young Adult
Online Access:	https://scholarbank.nus.edu.sg/handle/10635/161752
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Institution:	National University of Singapore

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spelling	sg-nus-scholar.10635-1617522024-11-09T18:24:59Z Two desmin gene mutations associated with myofibrillar myopathies in Polish families Fichna J.P. Karolczak J. Potulska-Chromik A. Miszta P. Berdynski M. Sikorska A. Filipek S. Redowicz M.J. Kaminska A. Zekanowski C. BIOMEDICAL ENGINEERING alpha actinin cadherin desmin M cadherin myosin heavy chain nucleotide unclassified drug desmin adult Article bioinformatics cell nucleus cellular distribution clinical article controlled study desminopathy family study female gene deletion gene mutation human human tissue male middle aged missense mutation molecular dynamics muscle biopsy muscle fibril myofibrillar myopathy myopathy Poland protein aggregation protein expression protein folding protein localization protein structure simulation young adult chemistry genetic association genetics metabolism myopathy nucleotide sequence pathology pedigree skeletal muscle Adult Desmin DNA Mutational Analysis Female Genetic Association Studies Humans Male Middle Aged Molecular Dynamics Simulation Muscle Fibers, Skeletal Mutation, Missense Myopathies, Structural, Congenital Pedigree Poland Sequence Deletion Young Adult 10.1371/journal.pone.0115470 PLoS ONE 9 12 e115470 2019-11-07T05:03:29Z 2019-11-07T05:03:29Z 2014 Article Fichna J.P., Karolczak J., Potulska-Chromik A., Miszta P., Berdynski M., Sikorska A., Filipek S., Redowicz M.J., Kaminska A., Zekanowski C. (2014). Two desmin gene mutations associated with myofibrillar myopathies in Polish families. PLoS ONE 9 (12) : e115470. ScholarBank@NUS Repository. https://doi.org/10.1371/journal.pone.0115470 19326203 https://scholarbank.nus.edu.sg/handle/10635/161752 Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ Unpaywall 20191101
institution	National University of Singapore
building	NUS Library
continent	Asia
country	Singapore Singapore
content_provider	NUS Library
collection	ScholarBank@NUS
topic	alpha actinin cadherin desmin M cadherin myosin heavy chain nucleotide unclassified drug desmin adult Article bioinformatics cell nucleus cellular distribution clinical article controlled study desminopathy family study female gene deletion gene mutation human human tissue male middle aged missense mutation molecular dynamics muscle biopsy muscle fibril myofibrillar myopathy myopathy Poland protein aggregation protein expression protein folding protein localization protein structure simulation young adult chemistry genetic association genetics metabolism myopathy nucleotide sequence pathology pedigree skeletal muscle Adult Desmin DNA Mutational Analysis Female Genetic Association Studies Humans Male Middle Aged Molecular Dynamics Simulation Muscle Fibers, Skeletal Mutation, Missense Myopathies, Structural, Congenital Pedigree Poland Sequence Deletion Young Adult
spellingShingle	alpha actinin cadherin desmin M cadherin myosin heavy chain nucleotide unclassified drug desmin adult Article bioinformatics cell nucleus cellular distribution clinical article controlled study desminopathy family study female gene deletion gene mutation human human tissue male middle aged missense mutation molecular dynamics muscle biopsy muscle fibril myofibrillar myopathy myopathy Poland protein aggregation protein expression protein folding protein localization protein structure simulation young adult chemistry genetic association genetics metabolism myopathy nucleotide sequence pathology pedigree skeletal muscle Adult Desmin DNA Mutational Analysis Female Genetic Association Studies Humans Male Middle Aged Molecular Dynamics Simulation Muscle Fibers, Skeletal Mutation, Missense Myopathies, Structural, Congenital Pedigree Poland Sequence Deletion Young Adult Fichna J.P. Karolczak J. Potulska-Chromik A. Miszta P. Berdynski M. Sikorska A. Filipek S. Redowicz M.J. Kaminska A. Zekanowski C. Two desmin gene mutations associated with myofibrillar myopathies in Polish families
description	10.1371/journal.pone.0115470
author2	BIOMEDICAL ENGINEERING
author_facet	BIOMEDICAL ENGINEERING Fichna J.P. Karolczak J. Potulska-Chromik A. Miszta P. Berdynski M. Sikorska A. Filipek S. Redowicz M.J. Kaminska A. Zekanowski C.
format	Article
author	Fichna J.P. Karolczak J. Potulska-Chromik A. Miszta P. Berdynski M. Sikorska A. Filipek S. Redowicz M.J. Kaminska A. Zekanowski C.
author_sort	Fichna J.P.
title	Two desmin gene mutations associated with myofibrillar myopathies in Polish families
title_short	Two desmin gene mutations associated with myofibrillar myopathies in Polish families
title_full	Two desmin gene mutations associated with myofibrillar myopathies in Polish families
title_fullStr	Two desmin gene mutations associated with myofibrillar myopathies in Polish families
title_full_unstemmed	Two desmin gene mutations associated with myofibrillar myopathies in Polish families
title_sort	two desmin gene mutations associated with myofibrillar myopathies in polish families
publishDate	2019
url	https://scholarbank.nus.edu.sg/handle/10635/161752
_version_	1821204662952394752

Two desmin gene mutations associated with myofibrillar myopathies in Polish families

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