A novel form of autosomal recessive distal hereditary motor neuronopathy (distal HMN) is reported. The presence of pyramidal signs within the early stages of the disease with persistence of knee hyperreflexia form distinctive clinical features. We have mapped the MMN-J gene to chromosome 9p21.1-p12, within an estimated interval of 1.2-Mb.
|Number of pages||4|
|Journal||Annals of the New York Academy of Sciences|
|Publication status||Published - 1999|