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GENATLAS PHENOTYPE
last update : 12-01-2016
Symbol CMS1D
Location 9q31.3
Name congenital myasthenic syndrome, 1D
Other name(s)
  • myasthenic myopathy
  • myasthenia, limb-girdle, familial
  • congenital myasthenic syndrome 9
    • Corresponding gene MUSK
    Other symbol(s) LGM
    Main clinical features severe respiratory distress in the neonatal period with phenotypic variation
    Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name muscle, skeletal, receptor tyrosine kinase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function mutation diminished expression and stability, leading to decreased ACHR aggregation and to abnormal neuromuscular junction
    Remark(s) . missense mutations can result in a severe form and indicate that the inability of MUSK mutants to interact with DOK7, but not with LRP4 or DNAJA3, is a major determinant of the pathogenesis (Maselli 2010)