Table 2

Molecular genetic, clinical, and electrophysiological data of family AC11

Tendon reflexes¶NCV (m/s)
PatientSexGenotype*Age of onsetAge at last examinationFoot deformity†Muscle atrophy‡Gait disturbance§ATRPTRSensory disturbance**Motor medianMotor tibialSural
*The haplotypes of deceased subjects I.2 and II.5 were deduced from the haplotype data of their offspring and are given in brackets.
†Foot deformity: mild foot deformity (+); needs orthopaedic shoes (++); requires surgery (+++).
‡Muscle atrophy: mild (+); moderate (++); severe (+++).
§Gait disturbance: difficulties in running (+); steppage gait (++); wheelchair dependent (+++).
¶Tendon reflexes: absent (–); diminished (+); normal (++).
**Sensory disturbance: mildly reduced sensitivity (+); severely reduced sensitivity (++); sensory loss (+++).
ND: not determined; NR: not recordable.
I.2F(−458A/G)25–3040+++NDNDNDNDNDND
II.5M(−458A)10–1550+++++++++++NDNDND
II.7M−458AUnaffected65
II.8M−458GUnaffected63
III.2F−458A/G20–2542+++++++++39.430.5NR
III.4F−458A/G2040+++++++++++40.129.2NR
III.5M−458GUnaffected37
III.6F−458A/G2034+++++++++41.732.3NR
IV.1M−458G5–1018+++++++++++32.2NDNR
IV.2F−458G/GUnaffected23
IV.3M−458A1016+++++++++33.825.4NR
IV.4M−458A513+++++++++++32.224.7NR