Mutation in FAM134B Causing Hereditary Sensory Neuropathy with Spasticity in a Turkish Family

doi: 10.1002/mus.24145

Hereditary sensory and autonomic neuropathy (HSAN) type 2 is a rare autosomal recessive disease that was first described by Ota et al in 1973 (1). We report the clinical and pathological findings of 2 siblings with HSAN type 2 due to a homozygous mutation in FAM134B.

Authors

  • Prof. Elif Ilgaz Aydinlar , MD
  • Prof. Arndt Rolfs , MD
  • Prof. Mustafa Serteser , MD
  • Prof. Yesim Parman , MD

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