Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot–Marie–Tooth disease type 2K

Highlights • CMT2K might be more common than CMT4A in Chinese patients. • AR-CMT2K and AD-CMT2K have similar features in Chinese patients. • Neurofilament accumulation was observed in giant axons of unmyelinated fibers. • GDAP1 p.H256R is a frequent mutation in Chinese patients.

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Bibliographische Detailangaben
Veröffentlicht in:	Neuromuscular disorders : NMD 2017-08, Vol.27 (8), p.760-765
Hauptverfasser:	Fu, Jun, Dai, Shixu, Lu, Yuanyuan, Wu, Rui, Wang, Zhaoxia, Yuan, Yun, Lv, He
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset Axonal CMT Axons - pathology Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - pathology Charcot-Marie-Tooth Disease - physiopathology Charcot–Marie–Tooth disease Child Child, Preschool China Chinese population Family GDAP1 Humans Infant Inheritance Patterns Mitochondria - pathology Mutation Nerve Tissue Proteins - genetics Neurology Phenotype Schwann Cells - pathology Severity of Illness Index Sural Nerve - pathology Sural Nerve - physiopathology
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Beschreibung
Zusammenfassung:	Highlights • CMT2K might be more common than CMT4A in Chinese patients. • AR-CMT2K and AD-CMT2K have similar features in Chinese patients. • Neurofilament accumulation was observed in giant axons of unmyelinated fibers. • GDAP1 p.H256R is a frequent mutation in Chinese patients.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2017.04.001