All individuals with variants in gene TNNT1

42 entries on 1 page. Showing entries 1 - 42.
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00037250 - - - - - Germany - - - - - ? fetal physical inactivity, generalized hypotonia, Kataplexie, kraniofaziale Dysmorphie,sucking weakness 1 1 Andreas Laner
00037251 - - - - - Germany - - - - - ? fetal physical inactivity, generalized hypotonia, Kataplexie, kraniofaziale Dysmorphie,sucking weakness 1 1 Andreas Laner
00037252 - - - - - Germany - - - - - ? fetal physical inactivity, generalized hypotonia, Kataplexie, kraniofaziale Dysmorphie,sucking weakness 1 1 Andreas Laner
00037253 - - - - - Germany - - - - - ? fetal physical inactivity, generalized hypotonia, Kataplexie, kraniofaziale Dysmorphie,sucking weakness 1 1 Andreas Laner
00037254 - - - - - Germany - - - - - ? fetal physical inactivity, generalized hypotonia, Kataplexie, kraniofaziale Dysmorphie,sucking weakness 1 1 Andreas Laner
00154677 - PubMed: Johnston 2000, PubMed: Jin 2003, PubMed: Wang 2005 10-generation consanguineous family, 6 affecteds - yes United States Amish <02y - - - NEM tremors with hypotonia/mild contractures shoulders/hips (birth), progressive worsening proximal contractures, weakness, pectus carinatum deformity develops before children die of respiratory insufficiency (2nd year) 1 6 Johan den Dunnen
00154678 - - - - - United States - <1y - - - NEM form unknown 1 1 Tom Winder
00154679 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00154680 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00154681 - from website {DBsub-Emory} - - - (United States) - - - - - ? - 1 1 Madhuri Hegde
00154682 - - - F yes Iran - - - - - NEM - 1 2 Zohreh Fattahi
00374524 S-3156 PubMed: Ganapathy 2019 - - - India - - - - - ? Global developmental delay, hypomyelination, spasticity, hypotonia, flat facies and has a history of old fractures 1 1 Johan den Dunnen
00374525 S-2314 PubMed: Ganapathy 2019 - - - India - - - - - ? Motor delay, proximal muscle weakness, dysmorphism and chest deformity 1 1 Johan den Dunnen
00377597 mother PubMed: Holling 2022 family, affected mother/son F no Germany - - - - - NEM nemaline myopathy 1 2 Tess Holling
00377598 son PubMed: Holling 2022 son M no Germany - - - - - NEM autosomal-dominant nemaline myopathy 1 1 Tess Holling
00394186 Pat1 PubMed: Geraud 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no France Basque 00y29m - - - NEM see paper; ..., 29m-deceased; no foetal hypomobility; ogival palate; global hypotony; facial hypomimia; altered global mobility; no altered fine motor skills; tremor in the first few months of life; normal cognition; dysarthria, expressive language delay; failure to thrive; peripheral articular retraction; rigid spine; no diaphragm atrophy, diaphragmatic hernia; thoracic dystrophy; kyphoscoliosis; respiratory failure; non-invasive ventilation; gastrostomy 1 1 Johan den Dunnen
00394187 Pat2 PubMed: Geraud 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no France - 00y16m - - - NEM see paper; ..., 16m-deceased; no foetal hypomobility; no ogival palate; global hypotony; facial hypomimia; altered global mobility; no altered fine motor skills; no tremor in the first few months of life; normal cognition; no dysarthria, expressive language delay; failure to thrive; peripheral articular retraction; rigid spine; no diaphragm atrophy, diaphragmatic hernia; thoracic dystrophy; kyphoscoliosis; respiratory failure; no ventilatory support; no gastrostomy 2 1 Johan den Dunnen
00394188 Pat3 PubMed: Geraud 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes France Africa-N 00y06m - - - NEM see paper; ..., 6m-deceased; no foetal hypomobility; no ogival palate; global hypotony; altered global mobility; no altered fine motor skills; no tremor in the first few months of life; normal cognition; no dysarthria, expressive language delay; no failure to thrive; no peripheral articular retraction; no rigid spine; diaphragm atrophy, diaphragmatic hernia; no thoracic dystrophy; no kyphoscoliosis; respiratory failure; non-invasive ventilation; gastrostomy 1 1 Johan den Dunnen
00394189 family PubMed: van der Pol 2014 family, 3 affected, index case and 2 deceased paternal cousins M - Netherlands white - - - - NEM see paper; ..., <2y-deceased; no foetal hypomobility; no ogival palate; global hypotony; altered global mobility; no altered fine motor skills; no tremor in the first few months of life; normal cognition; no dysarthria, expressive language delay; failure to thrive; peripheral articular retraction; no rigid spine; diaphragm atrophy, diaphragmatic hernia; thoracic dystrophy; kyphoscoliosis; respiratory failure; tracheotomy; gastrostomy 2 3 Johan den Dunnen
00394190 family PubMed: van der Pol 2014 paternal cousin M no Netherlands - 03y - - - NEM 3y-deceased due to respiratory insufficiency; severe hypotonia, muscle weakness, contractures elbows and knees 1 1 Johan den Dunnen
00394191 family PubMed: van der Pol 2014 paternal cousin F - Netherlands - - - - - NEM 5y-deceased due to respiratory insufficiency; severe hypotonia, muscle weakness, severe pectus carinatum with kyphosis, contractures elbows and ankles 1 1 Johan den Dunnen
00394192 FamPatV1 PubMed: Marra 2015 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes United States Hispanic - - - - NEM see paper; ..., no foetal hypomobility; no ogival palate; global hypotony; altered global mobility; no altered fine motor skills; tremor in the first few months of life; normal cognition; dysarthria, expressive language delay; failure to thrive; peripheral articular retraction; no rigid spine; no diaphragm atrophy, diaphragmatic hernia; thoracic dystrophy; kyphoscoliosis; respiratory failure; non-invasive ventilation; no gastrostomy 1 1 Johan den Dunnen
00394303 FamPatIV16 PubMed: Konersman 2017 4-generation family, affected (4F, 6M) M - United States Jewish-Ashkenazi - - - - NEM fatiguing lower extremity muscles with prolonged exercise, mild facial weakness; high arched palate; elongated myopathic facies; pectus carinatum; mild scoliosis; mild waddling gait, 8y-inability to walk on heels; slender build; mild proximal muscle weakness, poor jump, quadriceps weakness; reduced deep tendon reflexe upper extremities; EMG 11y-myopathic; symptomatic improvement in endurance with l‐tyrosine 2 g/day for 3y; CK 249 (ref 30–150 IU/L); muscle biopsy nemaline rods almost exclusively present in type 1 fibers, striking fiber type disproportion, atrophic type 1 fibers and type 1 predominance 1 10 Johan den Dunnen
00394308 FamPatIV15 PubMed: Konersman 2017 brother of PatIV16 M - United States Jewish-Ashkenazi - - - - NEM 15y-mild difficulty lower extremity weight lifting; high arched palate; mild myopathic facies; reduced reflexes upper extremities compared to lower, absent at ankles; normal strength with ability to squat, jump, rise from kneeling position; unable to heel walk; no pectus deformity; no scoliosis; muscle biopsy nemaline rods almost exclusively in type 1 fibers and very rarely in type 2 fibers, congenital fiber type disproportion with relatively atrophic (20–70 um) type 1 and hypertrophic (100–130 um), EM demonstrated mitochondrial inclusions, no nemaline rods (likely secondary to sampling artifact) 1 1 Johan den Dunnen
00394309 FamPatIV13 PubMed: Konersman 2017 brother of PatIV16 M - United States Jewish-Ashkenazi - - - - NEM minor occasional tripping; minor difficulty heel walking, mild Achilles contractures bilaterally; high arched palate with elongated facies; no proximal muscle weakness, all deep tendon reflexes present; CK 57 (ref 38–174) 1 1 Johan den Dunnen
00394310 FamPatIII9 PubMed: Konersman 2017 father PatIV16 M - United States Jewish-Ashkenazi - - - - NEM in retrospect, noted inability to “bulk up” in his 20s (no focal muscle weakness) during weight training; very active in his youth, lean musculature; with age minor fatiguing in legs with prolonged exercise; elongated facies, high arched palate; normal reflexes; no pectus deformities; no difficulty walking on heels; 65y-minor dysphagia; reported symptomatic improvement in endurance with l‐tyrosine 2 g/day for 1y; CK 176 at age 65 (ref 30–220 U/L); muscle biopsy nemaline rods almost exclusively in type 1 fibers very rarely in type 2 fibers, evidence of fiber type disproportion with atrophic (20–40 um) type 1 and hypertrophic (80–100 um) type 2 fibers, type 1 fiber predominance 1 1 Johan den Dunnen
00394311 FamPatIII6 PubMed: Konersman 2017 nephew of PatIII9 M - United States Jewish-Ashkenazi - - - - NEM slow runner, difficulty riding bicycle compared to peers as teenager; mild gradual proximal muscle weakness with age; high arched palate; pectus carinatum; myopathic, elongated facies; deep tendon reflexes absent only at Achilles, brachioradialis bilaterally; 63y-no run, no jump, difficulty ascending stairs, can walk 3 miles/day; 63y-no Gower's maneuver; 15y-kyphosis, mild scoliosis; scapular winging; slender build; able to heel walk mildly unsteady, CK 142 (ref 39–308 IU/L); muscle biopsy nemaline rods mostly present in type 1 and rarely found in type 2 fibers., fiber type disproportion with atrophic type 1 and hypertrophic type 2 fibers, type 1 fiber predominance 1 1 Johan den Dunnen
00394312 FamPatIII5 PubMed: Konersman 2017 niece of PatIII9 F - United States Jewish-Ashkenazi - - - - NEM late teens Gowers' sign; difficulty walking long distance, rising from chair, climbing stairs; slender build; pectus carinatum; 18y-normal deep tendon reflexes; snoring, obstructive sleep apnea; 67y-walk independently, unable to heel walk; muscle biopsy nemaline rods mostly present in type 1 and rarely found in type 2 fibers, fiber type disproportion with atrophic type 1 and hypertrophic type 2 fibers 1 1 Johan den Dunnen
00394313 FamPatIII4 PubMed: Konersman 2017 niece of PatIII9 F - United States Jewish-Ashkenazi - - - - NEM 5y-Gowers' sign, difficulty running, climbing, jumping; childhood toe walking with minor difficulty, 54y-heel walking; gradual weakness in leg, 60y-independently ambulatory; slender build; no pectus deformity; high arched palate; 54y-no run, minor difficulty swallowing; muscle biopsy nemaline rods mostly present in type 1 and rarely found in type 2 fibers, fiber type disproportion with atrophic type 1 and hypertrophic type 2 fibers 1 1 Johan den Dunnen
00394314 FamPatIII2 PubMed: Konersman 2017 sister of PatIII4 F - United States Jewish-Ashkenazi - - - - NEM infancy lordotic posture, Gowers' sign, difficulty climbing stairs and running, waddling gait;10y-pes cavus, inability to walk on heels; mild dyspnea on exertion since teens; moderate difficulty walking prolonged distances; decreased deep tendon reflexes upper extremities; 50y-mild occasional dysphagia; slender build; 65y-still ambulatory, can walk for more than 1h; noticed improvement in dyspnea on exertion with daily sustained exercise for several hours; muscle biopsy nemaline rods present in type 1 and 2 fibers distributed unevenly throughout sarcoplasm 1 1 Johan den Dunnen
00394315 FamPatII1 PubMed: Konersman 2017 mother of PatIII2/4 F - United States Jewish-Ashkenazi - - - - NEM 80y-deceased of stroke and complications of heart failure; 8y-inability to heel walk and waddle; 39y-mild shoulder/pelvic girdle weakness; 80y-intermittent use walker, dyspnea on exertion; 39y-normal deep tendon reflexes; slender build; 80y-able to ascend stairs with marked difficulty prior to death; muscle biopsy nemaline rods present in type 1 and 2 fibers and distributed unevenly throughout sarcoplasm, qualitatively fewer rods daughter III2 1 1 Johan den Dunnen
00394374 Pat1 PubMed: Abdulhaq 2017 - M - - - 5y5m - - - NEM 5.4y-deceased; poor fetal movements; transient tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 1y5m-mechanical ventilation; percutaneous gastrostomy feeding; 10m-muscle biopsy, type II fiber predominance, type I fiber smallness, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, whorled fibers, no central nuclei, no cores, no rods Gomori trichrom stain, electron microscopy no rods 1 1 Johan den Dunnen
00394375 Pat2 PubMed: Abdulhaq 2017 family, affected twin brothers M - - - 5y4m - - - NEM 5.3y-deceased; 33w-premature birth; transient tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 1y-mechanical ventilation; percutaneous gastrostomy feeding; 20m-muscle biopsy, type I fiber predominance, fiber size random variation, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, whorled fibers, no central nuclei, no cores, rods Gomori trichrom stain, electron microscopy rods 1 2 Johan den Dunnen
00394376 Pat3 PubMed: Abdulhaq 2017 twin M - - - 4y - - - NEM 4y-deceased; 34w-premature birth; transient tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 1y-mechanical ventilation; percutaneous gastrostomy feeding 1 1 Johan den Dunnen
00394377 Pat4 PubMed: Abdulhaq 2017 - M - - - - - - - NEM poor fetal movements; transient tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 1y-mechanical ventilation; percutaneous gastrostomy feeding; 9m-muscle biopsy, fiber type predominance, type I fiber smallness, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, whorled fibers, no central nuclei, no cores, no rods Gomori trichrom stain, electron microscopy no rods 1 1 Johan den Dunnen
00394378 Pat5 PubMed: Abdulhaq 2017 - F - - - 11y - - - NEM 11y-deceased; no perinatal anomalies; no tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 1y8m-mechanical ventilation; percutaneous gastrostomy feeding; 20m-muscle biopsy, type I fiber predominance, fiber size random variation, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, focal whorled fibers, no central nuclei, no cores, rods Gomori trichrom stain 1 1 Johan den Dunnen
00394379 Pat6 PubMed: Abdulhaq 2017 - M - - - 6y - - - NEM 6y-deceased; poor fetal movements; transient tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 2y-mechanical ventilation; percutaneous gastrostomy feeding; 14m-muscle biopsy, type II fiber predominance, type I fiber smallness, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, few whorled fibers, no central nuclei, no cores, rods Gomori trichrom stain, electron microscopy rods 1 1 Johan den Dunnen
00394380 Pat7 PubMed: Abdulhaq 2017 - F - - - - - - - NEM poor fetal movements; persistent tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 4y5m-mechanical ventilation; percutaneous gastrostomy feeding; 47m-muscle biopsy, type II fiber predominance, type I fiber smallness, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, no whorled fibers, no central nuclei, no cores, rods Gomori trichrom stain, electron microscopy no rods 1 1 Johan den Dunnen
00394381 Pat8 PubMed: Abdulhaq 2017 - F - - - - - - - NEM no perinatal anomalies; transient tremor; hypotonia; no kyphosis, no stiff neck; no failure to thrive; 1y-bilevel positive airway pressure; normal feeding 1 1 Johan den Dunnen
00394382 Pat9 PubMed: Abdulhaq 2017 - F - - - 2y5m - - - NEM 2.4y-deceased; poor fetal movements; no tremor; hypotonia; kyphosis, stiff neck; failure to thrive; 1.8y-mechanical ventilation; normal feeding; 16m-muscle biopsy, type II fiber predominance, type I fiber smallness, no fiber type grouping, focal endomysial fibrosis, no necrotic fibers, no regenerating fibers, no whorled fibers, no central nuclei, no cores, no rods Gomori trichrom stain 1 1 Johan den Dunnen
00404927 Fam9 PubMed: Sharifi 2021 analysis 432 SMA families - - Iran - - - - - SMA - 1 1 Johan den Dunnen
00442698 Pat70 PubMed: Westra 2019 - F - - - - - - - NMD Axial hypotonia and progressive myopathy (proximal > distal) with respiratory insufficiency and generalised tremors; muscle biopsy: presence of internal nuclei, focal rods and increased endomysial fibrosis; muscle ultrasound: no fasciculations, some hyperechogenic muscles; CK = 82 U/l; reduced mitochondrial energy production capacity 1 1 Johan den Dunnen
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