Op. Hamiel et al., HEREDITARY MOTOR-SENSORY NEUROPATHY (CHARCOT-MARIE-TOOTH DISEASE) WITH NERVE DEAFNESS - A NEW VARIANT, The Journal of pediatrics, 123(3), 1993, pp. 431-434
Hereditary motor-sensory neuropathy with sensorineural deafness is des
cribed in a family; the neurologic features and deafness were apparent
in early childhood and infancy. The clinical syndrome in the family w
as not closely linked to the Duffy blood group, nor was duplication de
monstrated at the disease-associated locus 17 p11.2. This family may r
epresent a different form of this heterogeneous disease.