Two Novel Mutations in Myosin Binding Protein C Slow Causing Distal Arthrogryposis Type 2 in Two Large Han Chinese Families May Suggest Important Functional Role of Immunoglobulin Domain C2

Open Access

Peer-reviewed

Research Article

Xuefu Li,

Affiliation Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, China
⨯
Bomeng Zhong,

Affiliation Emergency department, Nanjing First Hospital, Nanjing, China
⨯
Weitian Han,

Affiliation Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, China
⨯
Ning Zhao,

Affiliation Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, China
⨯
Wei Liu,

Affiliation Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, China
⨯
Yu Sui,

Affiliation Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, China
⨯
Yawen Wang,

Affiliation Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, China
⨯
Yongping Lu,

Affiliation Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, China
⨯
Hong Wang,

Affiliation Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, China
⨯
Jianxin Li,

Affiliation Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, China
⨯
Miao Jiang

* E-mail: jiangmiaocpt@aliyun.com

Affiliation Key Laboratory of Reproductive Health of Liaoning Province, Shenyang, China
⨯

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Myosins
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Nonsense mutation
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Chin
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Face
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Mouth
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Substitution mutation
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Body limbs
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Mutation detection
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