Heterozygous missense variant in the TTN gene causing Tibial muscular dystrophy

Panwar, D; Singh, KG; Mathur, S; Prasad, B; Joshi, A; Lal, V; Thatai, A

Thatai, A (通讯作者)，Dr Lal Pathlabs Ltd, Natl Reference Lab, Mol Diagnost Div, Block E,Sect 18, New Delhi 110085, India.

EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, 2022; 23 (1):

Abstract

Background Tibial muscular dystrophy (TMD), tardive, is a dominantly inherited mild degenerative disorder of anterior tibial muscles. Mutations of Tit......

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