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About 90% of cases are considered as sporadic, without any documented family history.
Therefore, there is a mosaic distribution of alterations and the condition is sporadic without familial transmission [ 118].
Regardless of whether a patient carries a known ALS-associated gene mutation or is sporadic without a known mutation, disease progression is similar clinically (McGoldrick et al., 2013), suggesting that the underlying motor neuron dysfunction is related.
Other atypical inheritance patterns, such as mitochondrial, digenic, triallelic and isodysomy, have also been associated with some RP cases [ 8]. Almost half of RP cases are sporadic, without any history of RD in the family.
PROBLEM: Recent genetic studies link multiple mutations which impair various steps in RNA metabolism to familial neurodegenerative disease, but the great majority of patients are defined as sporadic, without any known mutation as a cause.
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The patients were classified into three groups: hereditary melanoma carrying pathogenic CDKN2A-mutations (n = 8), familial history of melanoma without CDKN2A-mutations (n = 20), and sporadic cases (without family history of the disease; n = 41).
"And if you treat them in sporadic fashion, without the team effect, the outcome will be very bad".
The rest are sporadic, arising without warning in patients even though they do not have these mutations.
Kim Youmans, visual coordinator for the American Meteor Society, an organization of scientists and amateur astronomers that studies and reports on meteors, said the light may have been a sporadic meteor without a known point of origin.
We hypothesized that the majority of sporadic CRCs without CIN would be associated with CIMP.
From the 1960s through the 1980s, Norway's research activities in Antarctica were sporadic and without a fixed base.
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