Adult-onset SMA Form, With VRK1 Mutations, Found in 2 Hispanics

Adult-onset SMA Form, With VRK1 Mutations, Found in 2 Hispanics

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Adult-onset SMA Form, With VRK1 Mutations, Found in 2 Hispanics

Two mutations in the VRK1 gene were found in two unrelated Hispanic adults, with symptoms suggestive of an atypical form of adult-onset spinal muscular atrophy (SMA), according to a case report. While VRK1 mutations are mainly associated with pediatric-onset neuromuscular conditions marked by brain abnormalities and cognitive problems, these new cases are characterized by later disease onset, milder symptoms, and no brain or cognitive issues. The newly identified mutations may also be more frequent among Latinos, compared…

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