REFINEMENT OF THE CLINICAL PHENOTYPE IN
            <i>MUSK</i>
            -RELATED CONGENITAL MYASTHENIC SYNDROMES

Mihaylova, Violeta; Salih, Mustafa A.; Mukhtar, Midhat Mahmoud; Abu-Zeid, Hassan A.H.; El-Sadig, Sarah Misbah; Hagen, Maja von der; Huebner, Angela; Nürnberg, Gerd; Schöser, Benedikt; Müller, Judith; Lochmüller, Hanns; Guergueltcheva, Velina

doi:10.1212/wnl.0b013e3181c3fce9

Cited by 68 publications

(53 citation statements)

References 1 publication

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“…The findings included ptosis from an early age, partial ophthalmoparesis, and weakness of torso and limb girdle muscles. Pyridostigmine therapy gave only slight benefit (Mihaylova et al, 2009). …”

Section: Endplate Achr Deficiency Due To Defects In Muskmentioning

confidence: 99%

Congenital Myasthenic Syndromes - Molecular Bases of Congenital Defects of Proteins at the Neuromuscular Junction

Ohno¹,

Ito²,

Engel³

2012

Neuromuscular Disorders

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Section: Endplate Achr Deficiency Due To Defects In Muskmentioning

confidence: 99%

Congenital Myasthenic Syndromes - Molecular Bases of Congenital Defects of Proteins at the Neuromuscular Junction

Ohno¹,

Ito²,

Engel³

2012

Neuromuscular Disorders

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“…The MuSK deficiency is extremely rare, results from mutations of the MUSK gene (9q31.3) and manifests through respiratory failure with neonatal ptosis or in the infant with proximal appendiceal involvement, facial and ocular and bulbar variable 33 . MuSK is involved in end-plate maturation and maintenance processes, and aids rapsyn proper function and its complex interactions with AChR in the postsynaptic membrane.…”

Section: Musk Deficiency (Omim #616325)mentioning

confidence: 99%

“…MuSK is involved in end-plate maturation and maintenance processes, and aids rapsyn proper function and its complex interactions with AChR in the postsynaptic membrane. The allelic condition is the fetal akinesia deformation sequence 2,33 .…”

Section: Musk Deficiency (Omim #616325)mentioning

confidence: 99%

Clinical and genetic basis of congenital myasthenic syndromes

Souza

Batistella

Lino

et al. 2016

Arq. Neuro-Psiquiatr.

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Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital myasthenic syndromes with a genetic and sometimes hereditary basis that resemble and mimick many of the classic myasthenia neurological manifestations, but also have different presentations, which makes them a complex clinical, therapeutic and diagnostic challenge for most clinicians. We conducted a wide review of congenital myasthenic syndromes in their clinical, genetic and therapeutic aspects.

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“…1) [20]. Mutations in MUSK are a very rare cause of CMS [21][22][23]. A novel missense mutation (p.Asp38Glu) within the extracellular domain was identified in two brothers of Turkish origin [24].…”

Section: Muskmentioning

confidence: 99%

Inherited disorders of the neuromuscular junction: an update

2014

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Congenital myasthenic syndromes (CMSs) are a group of heterogeneous inherited disorders caused by mutations in genes affecting the function and structure of the neuromuscular junction. This review updates the reader on established and novel subtypes of congenital myasthenia, and the treatment strategies for these increasingly heterogeneous disorders. The discovery of mutations associated with the N-glycosylation pathway and in the family of serine peptidases has shown that causative genes encoding ubiquitously expressed molecules can produce defects at the human neuromuscular junction. By contrast, mutations in lipoprotein-like receptor 4 (LRP4), a long-time candidate gene for congenital myasthenia, and a novel phenotype of myasthenia with distal weakness and atrophy due to mutations in AGRN have now been described. In addition, a pathogenic splicing mutation in a nonfunctional exon of CHRNA1 has been reported emphasizing the importance of analysing nonfunctional exons in genetic analysis. The benefit of salbutamol and ephedrine alone or combined with pyridostigmine or 3,4-DAP is increasingly being reported for particular subtypes of CMS.

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REFINEMENT OF THE CLINICAL PHENOTYPE IN MUSK -RELATED CONGENITAL MYASTHENIC SYNDROMES

Cited by 68 publications

References 1 publication

Congenital Myasthenic Syndromes - Molecular Bases of Congenital Defects of Proteins at the Neuromuscular Junction

Congenital Myasthenic Syndromes - Molecular Bases of Congenital Defects of Proteins at the Neuromuscular Junction

Clinical and genetic basis of congenital myasthenic syndromes

Inherited disorders of the neuromuscular junction: an update

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