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KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate
The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay. The congenital myopathies are further classified into centranuclear myopathies, nemaline myopathies, core myopathies, and conge...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935987/ https://www.ncbi.nlm.nih.gov/pubmed/31908664 http://dx.doi.org/10.4103/jpn.JPN_60_19 |
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author | Avasthi, Kapil K. Agarwal, Sarita Panigrahi, Inusha |
author_facet | Avasthi, Kapil K. Agarwal, Sarita Panigrahi, Inusha |
author_sort | Avasthi, Kapil K. |
collection | PubMed |
description | The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay. The congenital myopathies are further classified into centranuclear myopathies, nemaline myopathies, core myopathies, and congenital fiber-type disproportion based on major pathological features found in muscle biopsies. There is no evidence at present to show that cleft palate is associated with severe nemaline myopathies and fetal akinesia. The results of our study suggest that KLHL40 mutation associated with Cleft palate, nemaline myopathy and fetal akinesia. |
format | Online Article Text |
id | pubmed-6935987 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-69359872020-01-06 KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate Avasthi, Kapil K. Agarwal, Sarita Panigrahi, Inusha J Pediatr Neurosci Case Report The congenital myopathies are a heterogeneous group of inherited neuromuscular disorders characterized by early-onset muscular weakness, hypotonia, and developmental delay. The congenital myopathies are further classified into centranuclear myopathies, nemaline myopathies, core myopathies, and congenital fiber-type disproportion based on major pathological features found in muscle biopsies. There is no evidence at present to show that cleft palate is associated with severe nemaline myopathies and fetal akinesia. The results of our study suggest that KLHL40 mutation associated with Cleft palate, nemaline myopathy and fetal akinesia. Wolters Kluwer - Medknow 2019 2019-12-03 /pmc/articles/PMC6935987/ /pubmed/31908664 http://dx.doi.org/10.4103/jpn.JPN_60_19 Text en Copyright: © 2019 Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Avasthi, Kapil K. Agarwal, Sarita Panigrahi, Inusha KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate |
title | KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate |
title_full | KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate |
title_fullStr | KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate |
title_full_unstemmed | KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate |
title_short | KLHL40 Mutation Associated with Severe Nemaline Myopathy, Fetal Akinesia, and Cleft Palate |
title_sort | klhl40 mutation associated with severe nemaline myopathy, fetal akinesia, and cleft palate |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935987/ https://www.ncbi.nlm.nih.gov/pubmed/31908664 http://dx.doi.org/10.4103/jpn.JPN_60_19 |
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