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Article

Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome.

Journal of human genetics - 1 Aug 2021

Bardhan Mainak, Polavarapu Kiran, Bevinahalli Nandeesh N, Veeramani Preethish-Kumar, Anjanappa Ram Murthy, Arunachal Gautham, Shingavi Leena, Vengalil Seena, Nashi Saraswati, Chawla Tanushree, Nagabushana Divya, Mohan Dhaarini, Horvath Rita, Nishino Ichizo, Atchayaram Nalini

Abstract excerpt

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...

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PMID: 33712684
DOI: 10.1038/s10038-021-00913-1

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