Distal hereditary motor neuropathy, Jerash type (Q103450): Difference between revisions
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Um grupo de pacientes de famílias consanguíneas foi identificado na região de Jerash, na Jordânia. Os pacientes desenvolveram fraqueza e atrofia dos membros inferiores associadas a características piramidais na primeira década de vida. A fraqueza posteriormente progrediu para envolver os membros superiores. A análise de ligação gênica mapeou a doença no locus 9p21.1-p12. | |||
| description / en | description / en | ||
A cluster of patients from consanguineous families was identified in the Jerash region of Jordan. Patients developed weakness and atrophy of the lower limbs associated with pyramidal features in the first decade of life. Weakness subsequently progressed to involve upper limbs. Linkage analysis has mapped the disease to the locus 9p21.1-p12. | |||
Revision as of 09:12, 17 August 2026
A cluster of patients from consanguineous families was identified in the Jerash region of Jordan. Patients developed weakness and atrophy of the lower limbs associated with pyramidal features in the first decade of life. Weakness subsequently progressed to involve upper limbs. Linkage analysis has mapped the disease to the locus 9p21.1-p12.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_578991299 |
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| English | Distal hereditary motor neuropathy, Jerash type |
A cluster of patients from consanguineous families was identified in the Jerash region of Jordan. Patients developed weakness and atrophy of the lower limbs associated with pyramidal features in the first decade of life. Weakness subsequently progressed to involve upper limbs. Linkage analysis has mapped the disease to the locus 9p21.1-p12. |
