Results 121 to 130 of about 2,278 (204)

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy. [PDF]

Hum Mol Genet
Dofash LNH, Folland C, Dyke J, Farhat E, Chaabouni M, Miladi N, Needham M, Lamont PJ, Ashton C, Ravenscroft G.   +9 more
europepmc   +1 more source

A novel gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features [PDF]

core   +1 more source

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Acta Neuropathologica Communications, 2018
Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, Guy Brochier, Clemence Labasse, Margherita Verardo, Emilia Servian-Morilla, Lara Gibellini, Marcello Pinti, Giulia Di Rocco, Salvatore Raffa, Elena Maria Pennisi, Enrico Silvio Bertini, Carmen Paradas, Norma Beatriz Romero, Giovanni Antonini   +15 more
doaj   +1 more source

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy. [PDF]

Neurol Genet
Hildebrandt C, Genetti CA, Logvinenko T, Win W, Barraza-Flores P, Hayes LH, Rockowitz S, Lehtokari VL, Iannaccone ST, Darras BT, Topaloglu H, Wallgren-Pettersson C, Beggs AH.   +12 more
europepmc   +1 more source

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age. [PDF]

Eur J Neurol
Bisciglia M, Severa G, Romero NB, Fardeau M, Rendu J, Stojkovic T, Laforêt P, Eymard B, Ferreiro A, Malfatti E, Béhin A.   +10 more
europepmc   +1 more source

A novel deep intronic mutation expands the genotype spectrum of MYH7-related myopathies. [PDF]

Acta Myol
Barp A, Neri LM, Maggi L, Iascone M, Gualandi F.   +4 more
europepmc   +1 more source

Characterization of novel CASQ1 variants in two families with unusual phenotypic features. [PDF]

J Neurol
Laarne M, Jokela M, Zhao F, Huovinen S, Kornblum C, Reimann J, Johari M, Vihola A, Sarparanta J, Udd B, Hackman P, Lehtokari VL, Pelin K.   +12 more
europepmc   +1 more source

Pathogenic TNNT1 variants are associated with aberrant thin filament compliance and myofibre hyper-contractility. [PDF]

J Physiol
Laitila J, Lewis CTA, Hessel AL, Primiano G, Hernandez-Lain A, Fiorillo C, Lawlor MW, Ottenheijm CAC, Jungbluth H, Man KF, Fornili A, Ochala J.   +11 more
europepmc   +1 more source

Vacuolar myopathy associated with lambda light chain myeloma: a case report and review of the literature. [PDF]

BMC Musculoskelet Disord
de Berny Q, Salle V, Renard C, Merle PE, Guilain N, Choukroun G, Morel P, Fourdinier O.   +7 more
europepmc   +1 more source

Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions. [PDF]

Eur J Hum Genet
Sagath L, Kiiski K, Naidu K, Patel K, Jonson PH, Laarne M, Djordjevic D, Yoon G, LaGroon A, Rogers C, Galindo MK, Scherer K, Kunstmann E, Koparir E, Ho D, Davis M, Joshi P, Zygmunt A, Orbach R, Donkervoort S, Bönnemann CG, Savarese M, Echaniz-Laguna A, Biancalana V, Genetti CA, Iannaccone ST, Beggs AH, Wallgren-Pettersson C, Henning F, Pelin K, Lehtokari VL.   +30 more
europepmc   +1 more source