Table 2 Clinical features of patients with MFN2 mutations.
From: Clinical and genetic features of a cohort of patients with MFN2-related neuropathy
Mutation | Patient # | Proximal weakness UL * | Distal weakness UL * | Proximal weakness LL * | Distal weakness LL * | Cutaneous sensation UL/LL§ | Pallesthesia UL/LL§ | Proprioception UL/LL§ | Optic atrophy | Scoliosis | Intellectual disability | Restrictive lung disease/Non-invasive respiratory support | Additional symptoms |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
R94Q | 01–1 | − | +++ | + | +++ | +/+ | −/− | −/− | − | − | − | − | − |
R104W | 02–1 | − | +++ | + | +++ | −/− | −/− | −/− | + | − | + | − | Bilateral cataracts, epilepsia partialis continua |
03–1 | + | + | ++ | ++ | −/− | −/+ | −/− | + | − | + | − | Lower limbs myoclonus, spastic paraparesis, dysphagia, sensorineural hearing defect | |
03–2 | + | +++ | +++ | +++ | −/− | −/− | −/− | − | − | + | + | Dysarthria, ataxic gait features | |
03–3 | ++ | +++ | ++ | +++ | −/+ | −/− | −/− | + | − | + | − | Dysarthria, lower limbs myoclonus | |
T236M | 04–1 | − | − | + | ++ | −/− | −/− | −/− | − | − | − | − | − |
S249C | 05–1 | − | + | + | +++ | −/− | −/− | −/− | − | − | − | − | − |
R280H | 06–1 | − | + | + | ++ | −/− | −/− | −/− | + | − | − | − | Sensorineural hearing defect |
07–1 | − | ++ | − | +++ | −/− | −/− | −/− | − | − | − | − | Dysphagia, ptosis | |
08–1 | − | − | − | ++ | −/− | −/− | −/− | − | − | − | + | MEPs/SSEPs alteration | |
K357E | 09–1 | + | +++ | +++ | +++ | +/+ | +/+ | +/+ | + | + | − | + | Vocal cord paresis |
A383V | 10–1 | − | + | + | +++ | −/− | −/− | −/− | − | − | − | − | − |
10–2 | − | +++ | − | +++ | −/− | +/+ | −/− | − | − | − | − | − |
