Autosomal recessive lower motor neuron disease with childhood onset (Q103442): Difference between revisions
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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.
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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. |
