Two desmin gene mutations associated with myofibrillar myopathies in Polish families

Two desmin gene mutations associated with myofibrillar myopathies in Polish families

10.1371/journal.pone.0115470

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Bibliographic Details
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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