ArticleJournal of human genetics2021
Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.
Article in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 14 citations in OpenAlex.
- Preclinical efficacy of a gene therapy forMolecular therapy. Advances · 2026Article
- Biosynthesis of Phosphatidylethanolamine and Phosphatidylcholine via the Kennedy Pathway in Cancer and Other Pathological Conditions.International journal of molecular sciences · 2026Review
- Exploratory proteomic analysis of Megaconial congenital muscular dystrophy skeletal myoblasts suggests cytoskeletal and contractile alterations.BMC neurology · 2026Article
- Psychological symptoms as the initial manifestation of choline kinase β-related muscular dystrophy.Journal of translational internal medicine · 2026Article
- Alternative splicing events of three rare variants in CHKB gene causing megaconial congenital dystrophy.Neurogenetics · 2025Article
- Novel CHKB Mutation Causing Megaconial Congenital Muscular Dystrophy: A Case Report from India.Annals of Indian Academy of Neurology · 2025Article
- Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.Neurogenetics · 2024Article
- The congenital muscular dystrophies.Annals of the Child Neurology Society · 2024Review
- Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.Molecular genetics & genomic medicine · 2023Article
- Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.Skeletal muscle · 2022Review
- 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
- Roles of the mFrontiers in immunology · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
15 authors at 4 institutions in 4 countries.
Funding
Abstract
Megaconial congenital muscular dystrophy (CMD)(OMIM #602541), related to CHKB mutation, is a rare autosomal recessive disorder. To date, only 35 confirmed patients are recorded. We present a detailed description of the clinical, histopathological, imaging, and genetic findings of five children from four Indian families. The children had moderate-to-severe autistic behavior, hand stereotypies, and global developmental delay mimicking atypical Rett syndrome. In addition, generalized hypotonia was a common initial finding. The progression of muscle weakness was variable, with two patients having a milder phenotype and three having a severe form. Interestingly, the majority did not attain sphincter control. Only patient 1 had classical ichthyotic skin changes. Muscle biopsy in two patients showed a myopathic pattern with characteristic peripherally placed enlarged mitochondria on modified Gomori trichrome stain and electron microscopy. Genetic analysis in these patients identified three novel null mutations in CHKB [c.1027dupA (p.Ser343LysfsTer86);c.224 + 1G > T (5' splice site); c.1123C > T (p.Gln375Ter)] and one reported missense mutation, c.581G > A (p.Arg194Gln), all in the homozygous state. Megaconial CMD, although rare, forms an important group with a complex phenotypic presentation and accounted for 5.5% of our genetically confirmed CMD patients. Atypical Rett syndrome-like presentation may be a clue towards CHKB-related disorder.
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