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

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B

(2013) Anita E. Beck et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A novel TNNI2 mutation causes Freeman–Sheldon syndrome in a Chinese family with an affected adult with only facial contractures

(2013) Xuefu Li et al.   GENE

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

(2013) B. Coste et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Distal arthrogryposis: clinical and genetic findings

(2012) Eva Kimber et al.   ACTA PAEDIATRICA

Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

(2012) Margaret J. McMillin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

(2012) Klaus Dieterich et al.   HUMAN MOLECULAR GENETICS

Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle

(2012) Anupama Vydyanath et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin

(2011) Zhe Chen et al.   BIOCHEMICAL JOURNAL

Myosin Binding Protein-C: A Regulator of Actomyosin Interaction in Striated Muscle

(2011) Maegen A. Ackermann et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

(2011) Steven Marston et al.   JOURNAL OF MUSCLE RESEARCH AND CELL MOTILITY

Genetic Linkage Analysis in the Presence of Germline Mosaicism

(2011) Omer Weissbrod et al.   Statistical Applications in Genetics and Molecular Biology

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

(2010) Christina A. Gurnett et al.   HUMAN MOLECULAR GENETICS

Myosin Binding Protein-C Slow: An Intricate Subfamily of Proteins

(2010) Maegen A. Ackermann et al.   JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY

Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation Channels

(2010) B. Coste et al.   SCIENCE

Cardiac Myosin Binding Protein-C Phosphorylation in a β-Myosin Heavy Chain Background

(2009) Sakthivel Sadayappan et al.   CIRCULATION

Freeman-Sheldon syndrome-prenatal and postnatal diagnosis

(2009) Sridevi S. Hegde et al.   INDIAN JOURNAL OF PEDIATRICS

Arthrogryposis: A Review and Update

(2009) Michael Bamshad et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

Sheldon-Hall syndrome

(2009) Reha M Toydemir et al.   Orphanet Journal of Rare Diseases

Muscle Giants: Molecular Scaffolds in Sarcomerogenesis

(2009) Aikaterini Kontrogianni-Konstantopoulos et al.   PHYSIOLOGICAL REVIEWS