Autosomal recessive lower motor neuron disease with childhood onset (Q103442): Difference between revisions
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Foi relatado que uma única família consanguínea do Mali desenvolveu características graves de atrofia muscular espinal distal na primeira infância. A insuficiência respiratória foi documentada em uma proporção de pacientes. Uma mutação homozigótica no gene PLEKHG5 (1p36.31) foi identificada. | |||
| description / en | description / en | ||
A single consanguineous family from Mali was reported to develop severe features of distal spinal muscular atrophy in early childhood. Respiratory failure was documented in a proportion of patients. A homozygous mutation in the PLEKHG5 gene (1p36.31) was identified. | |||
Revision as of 09:12, 17 August 2026
A single consanguineous family from Mali was reported to develop severe features of distal spinal muscular atrophy in early childhood. Respiratory failure was documented in a proportion of patients. A homozygous mutation in the PLEKHG5 gene (1p36.31) was identified.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1852084767 |
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| English | Autosomal recessive lower motor neuron disease with childhood onset |
A single consanguineous family from Mali was reported to develop severe features of distal spinal muscular atrophy in early childhood. Respiratory failure was documented in a proportion of patients. A homozygous mutation in the PLEKHG5 gene (1p36.31) was identified. |
