Litcius/Paper detail

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

Jessica X. Chong, Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively, Colby T. Marvin, Arthur S. Aylsworth, Reem Saadeh‐Haddad, Ulrich A. Schatz, Francesca Inzana, Tawfeg Ben‐Omran, Fatima Almusafri, Mariam AlMulla, Kati J. Buckingham, Tamar Harel, Hagar Mor‐Shaked, Periyasamy Radhakrishnan, Katta M. Girisha, Shalini S. Nayak, Anju Shukla, Klaus Dieterich, Julien Fauré, John Rendu, Yline Capri, Xénia Latypova, Deborah A. Nickerson, David M. Warshaw, Paul M.L. Janssen, Sharon L. Amacher, Michael J. Bamshad

2020The American Journal of Human Genetics34 citationsDOIOpen Access PDF

Topics & Concepts

ArthrogryposisMuscle contractureCongenital myopathyBiologyMyopathyMyosinDegeneration (medical)AnatomyEndocrinologyInternal medicineGeneticsMedicinePathologyMuscle biopsyCell biologyBiopsyNeurogenetic and Muscular Disorders ResearchCardiomyopathy and Myosin StudiesMuscle Physiology and Disorders
Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis | Litcius