Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.

Abstract excerpt

The landscape of genetic research in neuromuscular diseases is revealing an increasing number of genes capable of manifesting both neuropathic and myopathic phenotypes, sometimes in the same patient. While including these genes in broader next-generation sequencing panels addresses the clinical and neurophysiological challenges posed by overlapping or atypical features, it also introduces complexities in the...

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