1.
Ann N Y Acad Sci
; 883: 65-8, 1999 Sep 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-10586232
RESUMO
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 HMN-J gene to chromosome 9p21.1-p12, within an estimated interval of 1.2-Mb.
Assuntos
Cromossomos Humanos Par 9 , Neuropatia Hereditária Motora e Sensorial/genética , Mapeamento Cromossômico , Consanguinidade , Feminino , Neuropatia Hereditária Motora e Sensorial/classificação , Neuropatia Hereditária Motora e Sensorial/patologia , Neuropatia Hereditária Motora e Sensorial/fisiopatologia , Humanos , Jordânia , Masculino , Linhagem , Nervo Sural/patologia
2.
Ann N Y Acad Sci
; 883: 439-42, 1999 Sep 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-10586267
3.
4.
Ann N Y Acad Sci
; 883(1): 65-68, 1999 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29086969
RESUMO
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 HMN-J gene to chromosome 9p21.1-p12, within an estimated interval of 1.2-Mb.
