All individuals with variants in gene DTNA

19 entries on 1 page. Showing entries 1 - 19.
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00029650 - PubMed: Requena 2015, Journal: Requena 2015 3-generation famil, 3 affected females (succesive generations) F no Spain - - - - - Meniere see paper; sensorineural hearingloss, tinnitus, episodic vertigo 1 3 Johan den Dunnen
00064721 - - - M - Denmark - 48y - - - SUD - 1 1 Sofie Lindgren Christiansen
00151378 - PubMed: Ichida 2001, PubMed: Xing 2006 4-generation family, 6 affecteds; 5 patients with congenital heart defects (CHD) - - Japan - - - - - LVNC - 1 6 Johan den Dunnen
00315499 SUDS059 PubMed: Neubauer 2021 - F - Switzerland Europe 21y - - - SUD SUD 1 1 Cordula Haas
00317740 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00329097 155435 - submission for publication Schoen et al.; 2021: sudden unexplained death ? ? Germany - 28y - - - SIDS Sudden cardiac death 1 1 Andreas Laner
00433867 FamAPatII2 PubMed: Nascimento 2023 3-generation family, 5 affected (3F, 2M) M - - - - - - - MD creatine kinase 1780 (IU/L); no muscle weakness; myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy variability in fiber size, fibers with internalized nuclei, irregular intermyofibrillar pattern, slightly increased endomysial and/or perimysial connective tissue; no cognitive impairment 1 5 Johan den Dunnen
00433868 FamAPatII4 PubMed: Nascimento 2023 sister F - - - - - - - MD creatine kinase 150–200 (IU/L); no muscle weakness; myalgias; exercise intolerance; no rhabdomyolisis; no cognitive impairment 1 1 Johan den Dunnen
00433869 FamAPatII7 PubMed: Nascimento 2023 sister F - - - - - - - MD creatine kinase 380 (IU/L); no muscle weakness; myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy variability in fiber size, fibers with internalized nuclei, irregular intermyofibrillar pattern, slightly increased endomysial, and/or perimysial connective tissue; no cognitive impairment 1 1 Johan den Dunnen
00433870 FamAPatIII1 PubMed: Nascimento 2023 son M - - - - - - - MD creatine kinase 830–1590 (IU/L); no muscle weakness; myalgias; exercise intolerance; rhabdomyolisis; muscle biopsy variability in fiber size, fibers with internalized nuclei, irregular intermyofibrillar pattern, slightly increased endomysial, and/or perimysial connective tissue; no cognitive impairment 1 1 Johan den Dunnen
00433871 FamAPatIII2 PubMed: Nascimento 2023 daughter F - - - - - - - MD creatine kinase 490–3990 (IU/L); no muscle weakness; myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy variability in fiber size, fibers with internalized nuclei, irregular intermyofibrillar pattern, slightly increased endomysial, and/or perimysial connective tissue; no cognitive impairment 1 1 Johan den Dunnen
00433872 FamBPatI1 PubMed: Nascimento 2023 3-generation family, 5 affected (F, 4M) M - - - - - - - MD elevated creatine kinase; no muscle weakness; no myalgias; no exercise intolerance; learning delay 1 5 Johan den Dunnen
00433873 FamBPatII4 PubMed: Nascimento 2023 son M - - - - - - - MD elevated creatine kinase; no muscle weakness; myalgias; no exercise intolerance; muscle biopsy internalized nuclei and focal areas of inflammation involving connective tissue, mild to moderate fiber atrophy without regeneration, findings suggested myositis; no cognitive impairment 1 1 Johan den Dunnen
00433874 FamBPatIII1 PubMed: Nascimento 2023 grandson M - - - - - - - MD creatine kinase 3000–3500 (IU/L); muscle weakness; myalgias; exercise intolerance 1 1 Johan den Dunnen
00433875 FamBPatIII3 PubMed: Nascimento 2023 grandson M - - - - - - - MD creatine kinase 4000–6000 (IU/L); 8y-muscle weakness; myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy severe fiber size variation, striking patchy endomysial and perimysial inflammation, focal patchy aggregates of regenerating fibers, some of which contain vacuoles, inflammatory infiltrate composed of lymphocytes, significant numbers of eosinophils and rare neutrophils and is centered on myofibers as well as blood vessels; autism spectrum disorder, ADHD 1 1 Johan den Dunnen
00433876 FamCPatII1 PubMed: Nascimento 2023 2-generation family, 1 affected M - - - - - - - MD creatine kinase 8000 (IU/L); muscle weakness (hip adduction, hip extension); myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy mild myopathic features including internalized nuclei and type 1 fiber predominance; learning disability 1 1 Johan den Dunnen
00433877 FamDPatII3 PubMed: Nascimento 2023 3-generation family, 4 affected (4M) M - - - - - - - MD creatine kinase 388 (IU/L); no muscle weakness; no myalgias; no exercise intolerance 1 4 Johan den Dunnen
00433878 FamDPatIII2 PubMed: Nascimento 2023 son M - - - - - - - MD creatine kinase 2500–5100 (IU/L); no muscle weakness; myalgias; exercise intolerance; no rhabdomyolisis; muscle biopsy mild variation in fiber size, slight increase in internalized nuclei, focal rare endomysial lymphocytes and rare foci of myophagocytosis, small foci of basophilic regenerative fibers; autism spectrum disorder 1 1 Johan den Dunnen
00433879 FamPatIII5 PubMed: Malakootian 2022 2-generation family, 4 affected (2F, 2M) M - Iran - - - - - ATFB see paper; ..., early onset atrial fibrillation 1 4 Johan den Dunnen
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