Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review.

doi:10.1016/j.ejmg.2022.104552

Article

Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review.

European journal of medical genetics - 1 Aug 2022

Ehsani Elham, Khamirani Hossein Jafari, Abbasi Zahra, Gohari Mohammadreza, Zoghi Sina, Mohammadi Sanaz, Dianatpour Mehdi, Tabei Seyed Mohammad Bagher, Mohamadjani Omid, Dastgheib Seyed Alireza

Abstract excerpt

KY is located on chromosome 3 and encodes a transglutaminase-like protein in the skeletal muscles, namely Kyphoscoliosis Peptidase. KY is primarily involved in the formation and stabilization of neuromuscular intersections making it essential for the development of the musculoskeletal system. Mutations in KY cause Myofibrillar Myopathy-7 (MFM-7) and Hereditary Spastic Paraplegia (HSP). MFM-7 is an early onset...

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Genotypic and phenotypic spectrum of Myofibrillar Myopathy 7 as a result of Kyphoscoliosis Peptidase deficiency: The first description of a missense mutation in KY and literature review.

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