Autosomal recessive
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LF249 | Q163X/S194X | 46/M | 18 months | Gait clumsy,frequent falls | 12 | 12 | Dist. LL 0/5,dist. UL 0/5 | Decreased P, V, T, Po | Yes (vocal cord paresis) | Absent | Median nerve:NR/NR | Sural nerve:37/1.3 | Reduced number of large myelinated fibres,occasional onion bulbs and regenerative clusters |
LF20 | Q163X/T288fs | 42/M | Birth | Floppy infant,retarded milestones | 24 | 9 | Dist. LL 0/5,dist. UL 0/5 | Decreased P, V, T, Po | Yes (vocal cord paresis) | Absent | Median nerve:NR/NR | Sural nerve:46.3/0.2 | Reduced number of large myelinated fibres,occasional onion bulbs and regenerative clusters |
LF38 | Q163X/Q163X | 56/M | 2 years | NA | Delayed | 30 | Dist. LL 0/5,dist. UL 0/5 | Decreased P, V, T, Po | Yes | Absent | Median nerve:41/1.4 | NA | ND |
LF127 | S194X/T288fs | 13/F | 2 years | Walking problems | 11 | 13 | Prox. LL 4/5,dist. LL 0/5 | NA | Yes | Absent | Median nerve:NR/NR | Sural nerve:NR/NR | ND |
LF135 | Q163X/Q163X | 17/F | 18 months | Walking problems | NA | NA | Dist.l LL 0–1/5,dist. UL 2/5 | Normal | Yes | Absent | Median nerve:26/0.7 | Median nerve:53/3 | NA |
VAL1 | Q163X/Q163X | 54/F | 14 months | Muscle weakness,frequent falls | 10 | 10 | Prox. LL 2/5,dist. LL 0/5 | Normal | Yes (vocal cord paresis) | Absent | Normal NCV with reduced CMAP | Normal NCV with reduced SNAP | Reduced number of large myelinated fibres,no onion bulbs |
VAL3 | Q163X/Q163X | 19/M | 18 months | Muscle weakness and atrophy | 17 | 7 | Prox. LL 2/5,dist. LL 0/5 | Normal | Yes | Absent | EMG: neurogenic pattern,normal NCVs | ND |
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VAL4 | Q163X/Q163X | 53/M | 17 months | Foot walking problems | 14–15 | | Prox. LL 3–4/5,dist. LL 0/5 | Normal | Yes (vocal cord paresis) | Absent | EMG: neurogenic pattern,unexcitable nerves | ND |
VAL5 | Q163X/E114fs | 4/M | 10 months | Retarded milestones | 15 | Walking | 11 years | Normal | No | Absent | Median nerves:right UL 31.9/9.4;left UL 24/1.2 | NA | ND |
Autosomal dominant
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LF292 | R120W/+ | 36/M | 18 years | Feet pain,stepagge gait | NA | Walking | Dist. LL 3–4/5 | Reduction of pain and profound senses | No | Normal except ankle reflexes | Normal NCVs and CMAPs in median,peroneal, and posterior tibial nerves | Sural nerves:reduction of NCVs and SNAPs | ND |
LF293 | R120W/+ | 34/M | 14 years | Muscle weakness and atrophy,clumsiness,gait instability, | NA | Walking | Dist. LL 4/5 | Normal | No | Normal except ankle reflexes | Peroneal nerve: 45/mild reduction of CMAP | NA | ND |
VAL8 | T157P/+ | 10/F | 12 months | Delayed gait | 15 months | Walking | Prox. LL 5/5,dist. LL 2–3/5 | Reduced | No | Absent | 45/15 | NA | ND |