Results 111 to 120 of about 1,662 (201)

CARE-compliant case report: Nemaline myopathy caused by the ACTA1 p.Q139H missense mutation. [PDF]

Medicine (Baltimore)
Pei X, Zhai Y, Yang F, Lu W.
europepmc   +1 more source

Novel FHL1 Mutation Associated With Reducing Body Myopathy. [PDF]

Cureus
Ruffing KW, Rivera-Zengotita M, Kugelmann L, Jordan M.   +3 more
europepmc   +1 more source

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors

Congenital myopathies are a group of inherited muscle disorders characterized by hypotonia, weakness and a non-dystrophic muscle biopsy with the presence of one or more characteristic histological features.
Nascimento A, Thompson R, Natera-de Benito D, Colomer J, Jou C, Topf A, Lochmuller H, Abicht A, Muller JS, Evangelista T, Jimenez-Mallebrera C, Ortez C   +11 more
core  

Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel. [PDF]

J Neuromuscul Dis
Ross JE, Flowers M, McNulty S, Patel M, Yang H, Palus B, Abdelmoneim Elnagheeb M, Eng L, Owens E, Beggs AH, Bertini E, D'Amico A, Donkervoort S, Dowling J, Fattori F, Ferreiro A, Genetti CA, Gonorazky H, Lek M, Lindy A, Medne L, Muntoni F, Pajusalu S, Pelin K, Rendu J, Sarkozy A, Vatta M, Winder T, Yoon G, Bönnemann CG, Ceyhan-Birsoy O.   +30 more
europepmc   +1 more source

A Viewpoint on Reframing Genetic Myopathy Classification: A Unified, Semiotic, Tri-Axis Approach. [PDF]

Ann Indian Acad Neurol
Khadilkar SV, Halani HA.
europepmc   +1 more source

Expanding the histopathological spectrum of CFL2-related myopathies

, 2018
\ua9 2018 John Wiley & Sons A/S. Published by John Wiley & Sons LtdCongenital myopathies (CMs) caused by mutation in cofilin-2 gene (CFL2) show phenotypic heterogeneity ranging from early-onset and rapid progressive forms to milder myopathy ...
Bruno C, D'Amico A, Bellacchio E, Broda P, Lupica A, Rodolico C, Fagiolari G, Bertini E, Pizzi S, Pedemonte M, Fattori F, Fiorillo C, Ciolfi A, Verardo M, Moggio M, Tartaglia M, Tasca G   +16 more
core  

Sporadic late-onset nemaline myopathy with cardiomyopathy presenting as advanced heart failure despite autologous stem cell transplantation: a case report. [PDF]

Eur Heart J Case Rep
Guo C, Dou JH, Zhao S, Zhang Y.
europepmc   +1 more source

Proteomic analysis of nemaline myopathy in infants reveals distinct common dysregulated proteins and cellular pathways. [PDF]

Front Neurol
Hedberg-Oldfors C, Bedir AZ, Visuttijai K, Michael E, Oldfors A.   +4 more
europepmc   +1 more source

Case Report: Overlap syndrome with concurrent polymyositis, masticatory myositis, and lymphocytic thyroiditis in a dog. [PDF]

Front Vet Sci
Crawford-Jennings MI, Moreno RC, Shelton GD, Fowler KM, Vezza CR, Shinn RL, Parker RL, Wilkinson AR.   +7 more
europepmc   +1 more source

Glycogenin-1 deficiency: a case report and review of the literature. [PDF]

Front Genet
Molitierno N, Velardo D, Salvucci G, Abati E, Tumminello G, Ripolone M, Zanotti S, Napoli L, Ciscato P, Sciacco M, Comi GP, Corti S, Ronchi D.   +12 more
europepmc   +1 more source