Hereditary motor-sensory neuropathy (Charcot-Marie-Tooth disease) with nerve deafness: a new variant.
Hereditary motor-sensory neuropathy with sensorineural deafness is described in a family; the neurologic features and deafness were apparent in early childhood and infancy. The clinical syndrome in the family was not closely linked to the Duffy blood group, nor was duplication demonstrated at the disease-associated locus 17 p11.2. This family may represent a different form of this heterogeneous disease.
Hamiel
O P
OP
Department of Pediatrics and Genetics, Sheba Medical Center, Tel-Hashomer, Israel.
Raas-Rothschild
A
A
Upadhyaya
M
M
Frydman
M
M
Sarova-Pinhas
I
I
Brand
N
N
Passwell
J H
JH
D000293:Adolescent; D002607:Charcot-Marie-Tooth Disease / Q000150:complications* / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D002886:Chromosomes, Human, Pair 17; D003638:Deafness / Q000150:complications* / Q000235:genetics*; D005260:Female; D006801:Humans; D010375:Pedigree