Charcot–Marie–Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence

• Published in: Neuromuscular disorders : NMD Vol. 28; no. 8; pp. 639 - 645
• Main Authors: Arntzen, Kjell Arne, Høyer, Helle, Ørstavik, Kristin, Tallaksen, Chantal, Vedeler, Christian, Østern, Rune, Nebuchennykh, Maria, Braathen, Geir Julius, Fagerheim, Toril
• Format: Journal Article
• Language: English
• Published: England Elsevier B.V 01.08.2018
• Subjects: Autosomal; CMT4C; Demyelinating; Homozygous; Autosomal; CMT4C; Homozygous; Demyelinating

•Charcot–Marie–Tooth disease, type 4C is the most common recessive CMT in Norway.•We identified six new mutations in the SH3TC2-gene causing CMT4C.•Scoliosis, sensory ataxia and early debut were present in almost all CMT4C patients.•About 50% of CMT4C patients had proximal paresis and cranial nerve...