ArticleAnnals of Indian Academy of Neurology
A Rare Cause of Autism Spectrum Disorder: Megaconial Muscular Dystrophy.
Article in Annals of Indian Academy of Neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 7 citations in OpenAlex.
- Psychological symptoms as the initial manifestation of choline kinase β-related muscular dystrophy.Journal of translational internal medicine · 2026Article
- Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.BMC medical genomics · 2024Article
- Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.Molecular genetics & genomic medicine · 2023Article
- Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.Brain : a journal of neurology · 2022Article
- Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome.Molecular syndromology · 2022Article
- A Novel Variant of COL6A2 Gene Causing Bethlem Myopathy and Evaluation of Essential Hypertension.Annals of Indian Academy of NeurologyArticle
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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