SPINAL MUSCULAR ATROPHY, JOKELA TYPE
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- Acta neurologica Scandinavica
Mutations in the CHCHD10 gene, which encodes a mitochondrially targeted protein, have emerged as an important cause of… (More)
Divergent phenotypes in different individuals carrying an identical genetic defect are well known to occur in several… (More)
The objective of this study was to characterize and compare muscle histopathological findings in 3 different genetic motor neuron… (More)
A study was undertaken to identify the responsible gene defect underlying late onset spinal motor neuronopathy (LOSMoN… (More)
We describe the phenotype consistent with axonal Charcot-Marie-Tooth disease type 2 (CMT2) in 4 families with a c.197G… (More)