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
Topics & Concepts
ArthrogryposisMuscle contractureCongenital myopathyBiologyMyopathyMyosinDegeneration (medical)AnatomyEndocrinologyInternal medicineGeneticsMedicinePathologyMuscle biopsyCell biologyBiopsyNeurogenetic and Muscular Disorders ResearchCardiomyopathy and Myosin StudiesMuscle Physiology and Disorders