Summary Summary Short summary of a recent publication, written by scientific experts. Published: 29 Nov 2018

SYT2 variant discovery sheds light on rare distal motor neuropathy

Takeaway

  • This study confirms the involvement of SYT2 in neuromuscular junction dysfunction of a rare hereditary distal motor neuropathy.

Why this matters

  • The genetic profile and its relationship to phenotype are poorly understood in rare hereditary distal motor neuropathies.