Severe early-onset axonal neuropathy update

Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Neurology 2008 70: 1678-1681.
MFN2(mitofusin 2)遺伝子変異に伴うSevere early-onset axonal neuropathyは劣性遺伝に見えるが、両親の症状を考えると半優性遺伝を示唆する