All individuals with variants in gene AARS

72 entries on 1 page. Showing entries 1 - 72.
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00034595 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034596 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034597 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034598 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034599 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034600 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034601 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034602 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00034603 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00050079 ? - - - - Spain - - 0 - - CMT-2 - 1 1 Carmen Espinós
00050216 - PubMed: DDDS 2015, Journal: DDDS 2015 proband - - United Kingdom (Great Britain) - - 0 - - ? severe undiagnosed developmental disorders 1 1 Johan den Dunnen
00117852 - - - - - - - - 0 - - CMT Dominant, axonal, peripheral neuropathy 1 1 Heather McLaughlin
00117853 - - - - - - - - 0 - - CMT Dominant, axonal, peripheral neuropathy 1 1 Heather McLaughlin
00117854 - - - - - - - - 0 - - CMT Dominant, axonal Charcot-Marie-Tooth disease 1 1 Heather McLaughlin
00208547 - - - M - Germany - - 0 - - - HP:0001761 (Pes cavus) 1 1 Andreas Laner
00218991 28902413-Pat1 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMT2N, HMN; no family history 1 1 Johan den Dunnen
00263911 ? - - - - Spain - - 0 - - CMT-2 - 1 1 Carmen Espinós
00269336 - - - F - - - - 0 - - ? Pes cavus (HP:0001761); Distal amyotrophy (HP:0003693) 1 1 Andreas Laner
00281786 Pat6 PubMed: Sevy 2016, PubMed: Cerino 2020 - F - France - - 0 - - MPD - 1 1 Mathieu Cerino
00291535 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 11 Mohammed Faruq
00291536 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 20 Mohammed Faruq
00299982 Pat-AARS-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT - 1 1 Johan den Dunnen
00300032 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - 1 1 Johan den Dunnen
00300033 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - HSN - 1 1 Johan den Dunnen
00300132 Pat-AARS-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - 1 1 Johan den Dunnen
00300142 Pat-AARS-c PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - 1 1 Johan den Dunnen
00300152 Pat-AARS-d PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - 1 1 Johan den Dunnen
00300155 Pat-AARS-e PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - neuropathy - 1 1 Johan den Dunnen
00304532 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00317968 - - - F - - - - - - - ? HP:0001399 HP:0000252 HP:0100543 HP:0011344 HP:0000486 HP:0006829 HP:0001508 2 1 Fanny Kortüm
00324592 FamH09PatIII1 PubMed: Weterman 2018 5-generation family, 3 affected (3F) F - - - - 0 - - CMT distal atrophy and paresis arms (MRC grade 3) and legs (MRC 1–2); weakness quadriceps MRC 4; flat feet; distal sensory disturbances arms and legs; impaired joint position sense hallux, absent vibration sense of the legs; areflexia; EMG left ulnar motor nerve conduction velocity forearm 43 m/s (abductor digiti minimi muscle); right ulnar motor nerve conduction velocity forearm 41 m/s. No compound muscle action potentials recordable of median (abductor pollicis brevis muscle), peroneal (extensor digitorum brevis muscle) and tibial (abductor hallucis brevis muscle) nerves. No sensory nerve action potentials recordable of right median (2nd finger), left ulnar (5th finger) and right sural (lateral malleolus) nerves. Signs of denervation and reinnervation in predominantly distal leg and arm muscles; conclusion severe axonal sensorimotor polyneuropathy. 1 3 Johan den Dunnen
00324593 FamH09PatIV PubMed: Weterman 2018 - F - - - - 0 - - CMT calf hypertrophy, paresis anterior tibial and peroneal muscles (MRC 4), pes cavus, decreased vibration sense hallux, absent Achilles tendon jerks; EMG right median motor nerve conduction velocity forearm 39 m/s, left ulnar motor nerve conduction velocity forearm 52 m/s. No or very low compound muscle action potential amplitudes peroneal (extensor digitorum brevis muscle) both sides and left tibial (abductor hallucis brevis muscle) nerve. Decreased or no sensory nerve action potential amplitudes right median, left ulnar and right sural with decreased sensory nerve conduction velocitys. No denervation, signs of reinnervation in predominantly distal leg muscles; conclusion severe axonal sensorimotor polyneuropathy. 1 1 Johan den Dunnen
00324594 FamH19PatIII3 PubMed: Weterman 2018 4-generation family, 6 affected (2F, 4M) M - - - - 0 - - CMT atrophy lower legs, paralysis anterior tibialis muscles and toe extensors, paresis MRC 4 calf muscles, flat feet, distal sensory disturbances of the legs, decreased vibration sense of the feet, impaired joint position hallux, absent Achilles tendon jerks; EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 34 m/s; left ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 40 m/s. No recordable compound muscle action potentials peroneal both sides, extensor digitorum brevis muscle) and tibial (abductor hallucis brevis muscle) nerves. No recordable sensory nerve action potentials right median (2nd finger), left ulnar (5th finger) and right sural nerve (lateral malleolus). Signs of reinnervation in the predominantly distal leg and arm muscles; conclusion severe sensorimotor polyneuropathy with axonal and demyelinating features. 1 6 Johan den Dunnen
00324595 FamH19PatIII4 PubMed: Weterman 2018 - F - - - - 0 - - CMT paralysis feet, otherwise no examination performed; EMG median motor nerve conduction velocitys forearm left 11 m/s and right 17 m/s, although with very low compound muscle action potential amplitudes (abductor pollicis brevis muscle) both sides; Ulnar motor nerve conduction velocity forearm both sides 40 m/s, upper arm left 32 m/s and right 35 m/s with relatively normal compound muscle action potential amplitudes (abductor digiti minimi muscle). Very low to non-recordable sensory nerve action potential amplitudes in arms and legs. Signs of de- and reinnervation in predominantly distal arm muscles (legs not assessed); conclusion severe sensorimotor polyneuropathy with axonal and demyelinating features 1 1 Johan den Dunnen
00324596 FamH19PatIV1 PubMed: Weterman 2018 - M - - - - 0 - - CMT onset early childhood; atrophy and weakness MRC 4+ of distal leg muscles, pes cavus and hammer toes, slight sensory disturbances of the distal legs, decreased Achilles tendon jerks; EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 38 m/s; left ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 42 m/s. No compound muscle action potentials recordable left peroneal (extensor digitorum brevis muscle); decreased left compound muscle action potential amplitude of abductor hallucis brevis muscle muscle with decreased motor nerve conduction velocity. No sensory nerve action potentials recordable in arms and legs. No needle-EMG available; conclusion severe sensorimotor polyneuropathy with axonal and demyelinating features. 1 1 Johan den Dunnen
00324597 FamH19PatIV2 PubMed: Weterman 2018 - M - - - - 0 - - CMT weakness (MRC 4) of the distal arm and leg muscles. No foot deformities, no sensory disturbances, absent Achilles tendon jerks, extensor plantar response on the left; EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 40 m/s; left ulnar motor nerve conduction velocity (abductor digiti quinti muscle) forearm 39 m/s. No compound muscle action potentials recordable from the peroneal (both sides) and left tibial nerve. Very low to non-recordable sensory nerve action potentials in the arms and legs. Signs of reinnervation in distal and proximal arm and leg muscles; conclusion severe sensorimotor axonal polyneuropathy. 1 1 Johan den Dunnen
00324598 FamH19PatIV3 PubMed: Weterman 2018 - F - - - - 0 - - CMT EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 37 m/s; left ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 35 m/s; upper arm 50 m/s. No compound muscle action potentials peroneal (both sides) and left tibial nerve. Very low to non-recordable sensory nerve action potentials in arms and legs. Signs of denervation in the distal leg muscles and signs of reinnervation in distal and proximal arm and leg muscles; conclusion severe sensorimotor polyneuropathy with axonal and demyelinating features. 1 1 Johan den Dunnen
00324599 FamH19PatIV5 PubMed: Weterman 2018 - M - - - - 0 - - CMT atrophy and weakness distal legs (MRC 4), pes cavus, hammer toes and contractures Achilles tendons, decreased vibration sense hallux, absent Achilles tendon jerks, extensor plantar response on the right; EMG right median motor nerve conduction velocity (abductor pollicis brevis muscle) forearm 39 m/s; left ulnar motor nerve conduction velocity (abductor digiti quinti muscle) forearm 46 m/s. Very low to non-recordable compound muscle action potentials peroneal (extensor digitorum brevis muscle) both sides, left tibial (abductor hallucis brevis muscle) nerve. Very low to non-recordable sensory nerve action potentials of right median (2nd finger), left ulnar (5th finger) and right sural nerve (lateral malleolus). Signs of denervation and reinnervation in predominantly distal leg and arm muscles; conclusion severe sensorimotor axonal polyneuropathy. 1 1 Johan den Dunnen
00324600 FamL21PatII7 PubMed: Weterman 2018 5-generation family, 11 affected (7F, 4M) F - - - - 0 - - CMT bilateral paresis foot extensors (MRC 4), pes cavus, hypesthesia of left lower leg, absent Achilles and knee tendon reflexes at both sides; EMG near normal conduction studies of median and ulnar nerves. No recordable compound muscle action potentials and sensory nerve action potentials in distal legs; conclusion severe sensorimotor axonal polyneuropathy. 1 11 Johan den Dunnen
00324601 FamL21PatII10 PubMed: Weterman 2018 - M - - - - 0 - - CMT onset childhood; distal paresis (MRC 3-4),hypotonic feet, steppage gait, no sensory complaints, absent Achilles tendon jerks 1 1 Johan den Dunnen
00324602 FamL21PatII13 PubMed: Weterman 2018 - F - - - - 0 - - CMT distal paresis, atrophy of lower legs, steppage gait, no sensory disturbances, nystagmus, reflexes arms normal to brisk, absent Achilles tendon jerks, brisk knee tendon reflex, originally diagnosed with multiple sclerosis; EMG documented as severe sensorimotor axonal polyneuropathy, no recordings available 1 1 Johan den Dunnen
00324603 FamL21PatII4 PubMed: Weterman 2018 - M - - - - 0 - - CMT diffuse paresis of feet (MRC2-3), steppage gait, hypotonic feet, absent Achilles tendon jerks 1 1 Johan den Dunnen
00324604 FamL21PatIII48 PubMed: Weterman 2018 - F - - - - 0 - - CMT no paresis (MRC5), no sensory disturbances, complaints of pain in legs and cramps in feet, reflexes normal, right ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 58 m/s, very low compound muscle action potential amplitudes right peroneal nerve (extensor digitorum brevis muscle) and low compound muscle action potential amplitudes left tibial nerve (abductor hallucis brevis muscle) with reduced motor nerve conduction velocity; EMG non-recordable sensory nerve action potential sural nerve (lateral malleolus) both sides and reduced sensory nerve action potential amplitude right radial nerve (thumb). No signs of denervation or reinnervation in distal leg and arm muscles; conclusion sensorimotor axonal polyneuropathy 1 1 Johan den Dunnen
00324605 FamL21PatIII46 PubMed: Weterman 2018 - F - - - - 0 - - CMT distal paresis, specifically toe extensors, foot drop, steppage gait, pes cavus, no sensory disturbances, decreased deep tendon reflexes, no Achilles tendon jerks (both sides) or knee jerk (right); EMG no recordable compound muscle action potentials in distal legs and very low sensory nerve action potential amplitude sural nerve (lateral malleolus); conclusion severe sensorimotor axonal polyneuropathy. 1 1 Johan den Dunnen
00324606 FamL21PatIII35 PubMed: Weterman 2018 - F - - - - 0 - - CMT diffuse paresis of psoas foot extensors MRC 4), toe extensors and extensors hallicus (MRC 3 (right), MRC 4 (left)), pes cavus, no vibration sense toes, absent Achilles tendon jerks, other reflexes brisk; EMG right ulnar motor nerve conduction velocity (abductor digiti minimi muscle) forearm 51 m/s. Non-recordable compound muscle action potentials right peroneal (extensor digitorum brevis muscle) and left tibial (abductor hallucis brevis muscle) nerves. Non-recordable sensory nerve action potential left sural nerve (lateral malleolus). Signs of reinnervation in distal leg muscle; conclusion severe sensorimotor axonal polyneuropathy 1 1 Johan den Dunnen
00324607 Fam1PatIII1 PubMed: Latour 2010 4-generation family, 23 affected - - France - - 0 - - CMT first signs lower limbs before upper limbs, repeated ankle sprains; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 32.4m/s 1 23 Johan den Dunnen
00324608 Fam2PatII1 PubMed: Latour 2010 3-generation family, 5 affected - - France - - 0 - - CMT first signs lower limbs before upper limbs, walking difficulties; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 35-39m/s 1 5 Johan den Dunnen
00324609 Fam1PatIII3 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs lower limbs before upper limbs, lower limbs weakness; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs and upper limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 35m/s 1 1 Johan den Dunnen
00324610 Fam1PatIII5 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs repeated ankle sprains; weakness distal, lower limbs and upper limbs, sensory loss distal, lower limbs and upper limbs, reflex lost distal, lower limbs and upper limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 35.7m/s 1 1 Johan den Dunnen
00324611 Fam1PatIII6 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs lower limbs before upper limbs, walking difficulties; weakness distal, lower limbs and upper limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; 56y-walk with stick ; electroneuromyography motor and sensory alteration 1 1 Johan den Dunnen
00324612 Fam1PatIV1 PubMed: Latour 2010 - - - France - - 0 - - CMT asymptomatic; electroneuromyography normal 1 1 Johan den Dunnen
00324613 Fam1PatIV2 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs lower limbs before upper limbs, mild distal lower limbs amyotrophy; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 45.7m/s 1 1 Johan den Dunnen
00324614 Fam1PatIV3 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs lower limbs before upper limbs, foot deformation; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 40.8m/s 1 1 Johan den Dunnen
00324615 Fam1PatIV4 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs repeated ankle sprains; weakness distal, lower limbs and upper limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs and upper limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 50m/s 1 1 Johan den Dunnen
00324616 Fam1PatIV5 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs lower limbs before upper limbs, repeated ankle sprains; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 45m/s 1 1 Johan den Dunnen
00324617 Fam1PatIV7 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs lower limbs before upper limbs, pain and lower limbs weakness; weakness distal, lower limbs, no sensory loss distal,, reflex lost distal, lower limbs and upper limbs; 40y-walk with stick, 42y-wheelchair bound ; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 44.5m/s 1 1 Johan den Dunnen
00324618 Fam1PatIV8 PubMed: Latour 2010 - - - France - - 0 - - CMT asymptomatic; electroneuromyography normal 1 1 Johan den Dunnen
00324619 Fam1PatIV9 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs lower limbs before upper limbs, lower limbs and hand weakness; weakness distal, lower limbs and upper limbs, sensory loss distal, lower limbs and upper limbs, reflex lost distal, lower limbs and upper limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 36.5m/s 1 1 Johan den Dunnen
00324620 Fam1PatIV10 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs lower limbs before upper limbs, repeated ankle sprains; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration 1 1 Johan den Dunnen
00324621 Fam1PatIV11 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs lower limbs before upper limbs, repeated ankle sprains; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs and upper limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 40.5m/s 1 1 Johan den Dunnen
00324622 Fam1PatIV12 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs lower limbs before upper limbs, lower limbs weakness; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration 1 1 Johan den Dunnen
00324623 Fam1PatIV13 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs lower limbs weakness; weakness distal, lower limbs and upper limbs, no sensory loss distal,, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 42.4m/s 1 1 Johan den Dunnen
00324624 Fam1PatIV16 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs lower limbs before upper limbs, cramps in lower limbs; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs; ambulant; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 43.5m/s 1 1 Johan den Dunnen
00324625 Fam1PatV1 PubMed: Latour 2010 - - - France - - 0 - - CMT asymptomatic; electroneuromyography motor and sensory alteration, motor nerve conduction velocity 46m/s 1 1 Johan den Dunnen
00324626 Fam1PatV2 PubMed: Latour 2010 - - - France - - 0 - - CMT first signs lower limbs before upper limbs, repeated ankle sprains; weakness distal, lower limbs, sensory loss distal, lower limbs, reflex lost distal, lower limbs and upper limbs; ambulant 1 1 Johan den Dunnen
00324627 Fam1CMT243 PubMed: McLaughlin 2012 4-generation family, 9 affected - - Australia - - 0 - - CMT - 1 9 Johan den Dunnen
00324628 FamCMT513 PubMed: McLaughlin 2012 3-generation family, 4 affected - - Australia - - 0 - - CMT - 1 4 Johan den Dunnen
00324629 controls PubMed: McLaughlin 2012 - - - Australia - - 0 - - Healthy/Control - 1 8 Johan den Dunnen
00324630 controls PubMed: McLaughlin 2012 - - - Australia - - 0 - - Healthy/Control - 1 2 Johan den Dunnen
00324631 controls PubMed: McLaughlin 2012 - - - Australia - - 0 - - Healthy/Control - 1 11 Johan den Dunnen
00324632 controls PubMed: McLaughlin 2012 - - - Australia - - 0 - - Healthy/Control - 1 12 Johan den Dunnen
00324633 family PubMed: Lin 2011 3-generation family, 7 affected (4F, 3M) - - Taiwan - - 0 - - CMT see paper; ... 1 7 Johan den Dunnen
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