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October to December 2018 | Vol. 11 | Issue 4 | 02-05
Megaconial Muscular Dystrophy with a Novel Mutation in the CHKB Gene
Seema Thakur1, Arvind Kumar1, Neerja Gupta2, Mehar Chand Sharma3
1Fortis Hospital, AA Block, Shalimar Bagh, New Delhi 2Genetic Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 3Department of Pathology, All India Institute of Medical Sciences, New Delhi
Address for Correspondence Email: seematranjan@gmail.com
Congenital muscular dystrophy is a genetically heterogenous disorder. We report two sisters with megaconial myopathy who presented with developmental delay, congenital muscular dystrophy and acanthosis with ichthyosis. About 36 cases have been described in world literature. Ours is the first case report from India. Whole exome sequencing identified a novel homozygous nonsense mutation in the CHKB gene.
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