All individuals with variants in gene TK2

14 entries on 1 page. Showing entries 1 - 14.
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VIP     
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Owner     
00003022 - PubMed: Neveling 2013 - - - - - - - - - ? exercise intolerance 1 1 Marcel Nelen
00004540 - - - M no United Kingdom (Great Britain) white - - - - MYOP mtDNA depletion myopathy 2 1 Robert McFarland
00037234 - - - - - Germany - - - - - ? cerebellar seizures, psychomotor developmental delay, hypotonia, scoliosis 1 1 Andreas Laner
00037235 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037236 - - - - - Germany - - - - - - - 1 1 Andreas Laner
00037237 - - - - - Germany - - - - - ? severe hypotonia (on mechanical ventilation); high CK, dystrophic changes, some fibers with lipid accumulation and mosaic COX deficiency in muscle biopsy 1 1 Andreas Laner
00296592 Pat25 PubMed: Taylor 2014 - F yes United Kingdom (Great Britain) British <01m - - - ? deceased; muscle affected; central nervous system affected; heart not affected; liver not affected; lactic acidosis, severe weakness, lissencephaly, mtDNA depletion 1 1 Johan den Dunnen
00374523 S-5111 PubMed: Ganapathy 2019 - - - India - - - - - ? Congenital muscular dystrophy 1 1 Johan den Dunnen
00448218 Pat13 PubMed: Poli 2024 - F - Chile - - - - - ? neurodegeneration; necrotizing myopathy; metabolic alterations (ck 4000; mildly elevated lactate) 2 1 Johan den Dunnen
00473255 Fam113261Pat465 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history F yes Iran - - - - - MYOP onset 2-3y ; Difficulty climbing steps; Muscle weakness, lower>upper limbs; Elevated CPK level; EMG-NCV: suggestive of non-inflammatory myopathy; Muscle biopsy: Mitochondrial myopathy; Echocardiography: TR (+). Parental consanguinity, in the presence of family history suspected genetic etiology. 1 1 Johan den Dunnen
00473388 Fam207893Pat673 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history M no Iran - - - - - MYOP Sporadic case, started at age 29y , proximal and distal upper and lower muscle weakness, muscle cramps, positive Gower's sign, dysarthria , gait abnormality, myopathy reported in EMG, mitochondrial myopathy suggested in muscle biopsy , elevated CPK, normal echocardiography and normal IHC for all examined antibodies 1 1 Johan den Dunnen
00473406 Fam208660Pat699 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F no Iran - - - - - MYOP onset 2y, Seizures; Difficulty rising from seated position; Difficulty walking & running; Progressive muscle weakness; Hypotonia; Abnormal gait; Decreased muscle force, proximal>distal; Myopathic face; Dysarthria; Muscle biopsy: multiple ragged fibers, suggestive of mitochondrial myopathy. 1 1 Johan den Dunnen
00473579 Fam9405636Pat969 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, no family history F yes Iran - - - - - LGMD onset 6y with recurrent pneumonia; Generalized muscle weakness, mild progressive since 6y; Symmetrical muscle weakness & atrophy; Facial muscle weakness; Decreased muscle force; Difficulty climbing steps & running; Difficulty swallowing; EMG-NCV: non-irritable myopathy; Elevated level of CPK & Aldolase. 1 1 Johan den Dunnen
00473707 Fam9600773Pat1140 PubMed: Molaei 2025 analysis 2009 neuromuscular disorder individuals; patient, family history M yes Iran - - - - - MD Difficulty rising from seated position, climbing stairs & running; Prominent forehead; Muscle weakness, proximal, leg>arm; Lordosis, mild; Flat feet; Abnormal gait, mild; Prominent calves, mild. Elevated serum CK and EMG-NCV findings were compatible with irritable myopathic process at proximal and distal muscles 1 1 Johan den Dunnen
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