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A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy
Megaconial congenital muscular dystrophy (OMIM 602541) is defined by early-onset hypotonia, mildly elevated serum creatine kinase (CK) levels, muscle wasting, cardiomyopathy, psychomotor developmental delay and intellectual disability. The disease is caused by loss-of-function mutations in Choline k...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7887486/ https://www.ncbi.nlm.nih.gov/pubmed/33623274 http://dx.doi.org/10.4103/aian.AIAN_98_19 |
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author | Kutluk, Gultekin Kadem, Naz Bektas, Omer Eroglu, Hatice Nur |
author_facet | Kutluk, Gultekin Kadem, Naz Bektas, Omer Eroglu, Hatice Nur |
author_sort | Kutluk, Gultekin |
collection | PubMed |
description | Megaconial congenital muscular dystrophy (OMIM 602541) is defined by early-onset hypotonia, mildly elevated serum creatine kinase (CK) levels, muscle wasting, cardiomyopathy, psychomotor developmental delay and intellectual disability. The disease is caused by loss-of-function mutations in Choline kinase beta gene (CHKB) and has specific muscle biopsy findings. Here we investigate two patients with weakness of proximal muscles and generalized muscle atrophy, skin changes, agressiveness, social communication and empathy difficulties. Both patients had mildly elevated serum CK levels. Whole exome sequencing (WES) performed for both patients and homozygous c.818+1G>A and homozygous c.1031+1G>A variants were detected in patient 1 and patient 2, respectively. We would like to draw the attention of autism spectrum disorder in early diagnosis of congenital muscular dystrophies. |
format | Online Article Text |
id | pubmed-7887486 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-78874862021-02-22 A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy Kutluk, Gultekin Kadem, Naz Bektas, Omer Eroglu, Hatice Nur Ann Indian Acad Neurol Case Reports Megaconial congenital muscular dystrophy (OMIM 602541) is defined by early-onset hypotonia, mildly elevated serum creatine kinase (CK) levels, muscle wasting, cardiomyopathy, psychomotor developmental delay and intellectual disability. The disease is caused by loss-of-function mutations in Choline kinase beta gene (CHKB) and has specific muscle biopsy findings. Here we investigate two patients with weakness of proximal muscles and generalized muscle atrophy, skin changes, agressiveness, social communication and empathy difficulties. Both patients had mildly elevated serum CK levels. Whole exome sequencing (WES) performed for both patients and homozygous c.818+1G>A and homozygous c.1031+1G>A variants were detected in patient 1 and patient 2, respectively. We would like to draw the attention of autism spectrum disorder in early diagnosis of congenital muscular dystrophies. Wolters Kluwer - Medknow 2020 2020-12-08 /pmc/articles/PMC7887486/ /pubmed/33623274 http://dx.doi.org/10.4103/aian.AIAN_98_19 Text en Copyright: © 2006 - 2020 Annals of Indian Academy of Neurology 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 Reports Kutluk, Gultekin Kadem, Naz Bektas, Omer Eroglu, Hatice Nur A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy |
title | A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy |
title_full | A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy |
title_fullStr | A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy |
title_full_unstemmed | A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy |
title_short | A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy |
title_sort | rare cause of autism spectrum disorder: megaconial muscular dystrophy |
topic | Case Reports |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7887486/ https://www.ncbi.nlm.nih.gov/pubmed/33623274 http://dx.doi.org/10.4103/aian.AIAN_98_19 |
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