Genetic testing for monogenic forms of motor neuron disease/amyotrophic lateral sclerosis in unaffected family members
Motor neuron disease (MND), also referred to as amyotrophic lateral sclerosis (ALS), is a monogenic disease in a minority of cases, with autosomal dominant inheritance. Increasing numbers of people with MND are requesting genetic testing, and indeed receiving a genetic diagnosis. Consequently, reque...
Hlavní autoři: | Howard, J, Chaouch, A, Douglas, AGL, MacLeod, R, Roggenbuck, J, McNeill, A |
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Médium: | Journal article |
Jazyk: | English |
Vydáno: |
Springer Nature [academic journals on nature.com]
2024
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