Work

Three novel recessive mutations in LAMA2, SYNE1, and TTN are identified in a single case with congenital muscular dystrophy

Year: 2017

Type: article

Study design: Case Report

Source: Neuromuscular Disorders

DOI: 10.1016/j.nmd.2017.06.558

Authors: Liang Wu, Bingwu Xiang, Huan Zhang, Xiaoxiao He, Celina Shih, Xiang Chen, Tao Cai

Institutions: Wenzhou Medical University, Second Affiliated Hospital & Yuying Children's Hospital of Wenzhou Medical University, Shenzhen Children's Hospital, National Institutes of Health, National Institute of Dental and Craniofacial Research

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Ministry of Health of the People's Republic of China

OpenAlex ID: W2724809346

FWCI: 0.558

Cites: 25

Cited by: 9

Related to: 10