Results 141 to 150 of about 2,996 (188)

Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions. [PDF]

J Neuromuscul Dis, 2017
Nicole S, Azuma Y, Bauché S, Eymard B, Lochmüller H, Slater C.   +5 more
europepmc   +1 more source

Ephedrine for myasthenia gravis, neonatal myasthenia and the congenital myasthenic syndromes. [PDF]

Cochrane Database Syst Rev, 2014
Vrinten C, van der Zwaag AM, Weinreich SS, Scholten RJ, Verschuuren JJ.   +4 more
europepmc   +1 more source

Adult-onset PLEC-related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness. [PDF]

Neurogenetics
Jose A, Azily AJ, Doyle K, Stals K, Lees H, McKenna C, McKnight AJ, McConville J, McMacken G.   +8 more
europepmc   +2 more sources

Six-minute walk test to assess muscular fatigability and mobility in children with congenital myasthenic syndrome: a pilot study. [PDF]

Rev Assoc Med Bras (1992)
Bulut N, Yağcıoğlu GA, Demir A, Alemdaroğlu-Gürbüz İ, Haliloğlu G, Tunca Ö.   +5 more
europepmc   +1 more source

Neuromuscular Disorders in Children Through the Lens of Next-Generation Sequencing: A Study of Diagnostic Yield. [PDF]

Int J Mol Sci
Ostojić S, Kovačević G, Ilić N, Marić N, Anđelković M, Lalić T, Mišković M, Ljubičić KK, Marjanović I, Paripović A, Baša M, Vukomanović V, Krstić J, Adamović M, Sovtić A, Sarajlija A.   +15 more
europepmc   +1 more source

Anesthetic Considerations in Congenital Myasthenic Syndrome: A Case Report. [PDF]

Cureus
Knio ZO, Dean J, O'Brien J.
europepmc   +1 more source

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Congenital Myasthenic Syndromes

Seminars in Neurology, 2004
Congenital myasthenic syndromes are genetic disorders of neuromuscular transmission that should be considered in the differential diagnosis of seronegative myasthenia gravis and other neuromuscular disorders. They are present at birth but may not manifest until childhood or adult life. A classification system of congenital myasthenic syndromes based on
C Michel Harper
exaly   +7 more sources

Congenital myasthenic syndromes due to mutations inALG2andALG14

Brain, 2013
Congenital myasthenic syndromes are a heterogeneous group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness.
Judith Cossins, Katsiaryna Belaya, Mustafa A Salih   +2 more
exaly   +3 more sources