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Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 May 2022

Wang Guangyu, Lv Xiaoqing, Xu Ling, Zhang Rui, Yan Chuanzhu, Lin Pengfei

Abstract excerpt

INTRODUCTION: Limb-girdle muscular dystrophy (LGMD) is a group of clinically heterogeneous muscle disorders commonly manifesting proximal limb girdle muscle weakness. There have been more than 30 subtypes of LGMD associated with causative genes and limb-girdle muscular dystrophy type 2J (LGMD2J) is caused by mutations in the TTN gene. METHODS: We report a Han Chinese family with LGMD2J. The proband and his sister...

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PMID: 35239051
DOI: 10.1007/s10072-022-05979-z

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