Chronic cough due to Thr124Met mutation in the peripheral myelin protein zero (MPZ gene).
Baloh
Robert H
RH
Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA. rbaloh@partners.org
Jen
Joanna C
JC
Kim
Gilbert
G
Baloh
Robert W
RW
D000328:Adult; D019943:Amino Acid Substitution; D001369:Axons / Q000502:physiology; D003062:Codon / Q000235:genetics; D003371:Cough / Q000235:genetics*; D007172:Erectile Dysfunction / Q000209:etiology; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D043183:Irritable Bowel Syndrome / Q000209:etiology; D008297:Male; D020125:Mutation, Missense; D018993:Myelin P0 Protein / Q000737:chemistry / Q000235:genetics* / Q000502:physiology; D010375:Pedigree; D017354:Point Mutation; D017434:Protein Structure, Tertiary; D012021:Reflex, Abnormal; D015845:Tonic Pupil / Q000235:genetics*; D014549:Urinary Incontinence / Q000209:etiology
D003062:Codon; D018993:Myelin P0 Protein