Login / Signup

Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating Polyradiculoneuropathy.

Isabella Di SarnoStefano TozzaFilippo Maria SantorelliEmanuele CassanoGemma NataleRaffaele DubbiosoLucia RuggieroAlessandra TessaRosa IodiceMaria NolanoFiore Manganelli
Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2024)
Diagnosis of a genetic neuropathy may be challenging when clinical features are atypical and/or electrophysiological features are misleading. The most common misdiagnosis is CIDP. Our report suggests that also CMT2CC patients with proximal muscle weakness and equivocal electrophysiological features might be misdiagnosed as CIDP.
Keyphrases
  • skeletal muscle
  • oxidative stress
  • genome wide
  • copy number
  • dna methylation
  • myasthenia gravis