Respiratory Onset Amyotrophic Lateral Sclerosis in a Patient With C9orf72 Expansion
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Respiratory-onset amyotrophic lateral sclerosis (ALS) is uncommon, accounting for less than 5% of all patients with ALS. Familial ALS is also uncommon, with the most common variant being related to a C9orf72 hexanucleotide repeat expansion. Respiratory-onset A... ...