Panel

Neuropathie (hereditär motorisch-sensorisch) Typ 1A

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A; CMT1A

Kategorie:

Importiert aus Diagnosen

Kilobasen des Panels:

keine Angaben
Beschreibung:
Schlagworte:
  • HMSN1A
  • CMT1A
  • Charcot-Marie-Tooth-Krankheit Typ 1A
  • CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, UNLINKED TO DUFFY
  • CMT 1A, UNLINKED TO DUFFY
  • HEREDITARY MOTOR AND SENSORY NEUROPATHY IA
  • HMSN IA
  • HMSN1A
  • CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1A
  • CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1A

Gen locations (6)

Cx32-GJB1 / Cx32/GJB1 / GJB1
ECEL1 / EGR2
LITAF / SIMPLE-LITAF
PMP22 / PMP22-dup