A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality

0

Mutations in the DYNC1H1 gene are associated with both diseases in the central and peripheral nervous system. Dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1) is located on chromosome 14q32 with 78 exons that encode the heavy chain protein of the cytoplasmic dynein 1 motor protein complex [1]. This motor protein complex plays a vital role in the neurons guiding the retrograde axonal transport, the cell organelles transport along microtubules, the spindle pole organization and the nuclear migration during mitosis [1–2].

Read More...

Leave A Reply