Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients

Fariba Zemorshidi,Shahriar Nafissi,Reza Boostani,Ehsan Ghayoor Karimiani,Bahram Haghi Ashtiani,Parvaneh Karimzadeh,Mohammad Miryounesi,Seyed Hassan Tonekaboni,Yalda Nilipour

Neuromuscular Disorders（2023）

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摘要

•Megaconial congenital muscular dystrophy is related to CHKB gene variants.•Features include delayed gross-motor milestones, autistic features and weakness.•Peripheral arrangements of large mitochondria and central areas devoid of mitochondria.•This report includes eleven different CHKB gene variants included six novel variants.

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muscular dystrophy,chkb gene variants,megaconial congenital,iranian patients

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