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GENATLAS PHENOTYPE
last update : 29-04-2010
Symbol MYTP
Location 5q31.2
Name myotilinopathy
Other name(s) myopathy, myofibrillar myotilin-related
Corresponding gene MYOT
Other symbol(s) MFM3
Main clinical features
  • characterized by a pathologic morphologic pattern of myofibrillar degradation and abnormal accumulation of proteins involved with the sarcomeric Z-disc, onset ranged from 50 to 77 years (mean, 59.8 years), progressive distal muscle weakness and peripheral neuropathy with hyporeflexia and at the electron microscopy presence of streaks of dense material emanating from Z-discs
    • Genetic determination autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     the serine-rich exon 2
    Remark(s)
  • S55F mutations may cause a clinically distinct autosomal-dominant late-onset and lower-limb distal myopathic syndrome involving all four leg muscle compartments (PMID: 17698502))
  • disease-causing myotilinopathy mutations result in reduced degradation, with formation of intracellular myotilin and actin-containing aggregates (PMID: 21361873))