All individuals with variants in gene DNAJB4

7 entries on 1 page. Showing entries 1 - 7.
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00412595 FamPatII5 PubMed: Inoue 2022, Journal: Inoue 2022 3-generation family, 6 affected (2F, 4M) F - Japan - - - - - MPD see paper; ..., raised serum creatine kinase level (646–1285 U/mL); childhood motor development normal; 30-50y-asymmetric thumb/grip weakness, atrophy thenar/hypothenar muscles and finger contractures; inability to stand on tiptoes, weakness/atrophy distal leg muscles; 60y-70y-asymmetric involvement proximal muscles, respiratory insufficiency, scoliosis, loss of ambulation 1 6 Michio Inoue
00423221 FamAPatII1 PubMed: Weihl 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Spain - - - - - MYOP diaphragmatic weakness with dyspnea; rigid spine; onset respiratory failure and syncope preceeded by symptoms of nocturnal hypoventilation few weeks before onset; dyspnea, patient on non-invasive respiratory support; normal muscle strength, only diaphragmatic weakness; normal gait; normal motor development; spinal rigidity; normal face; normal eyes; normal bulbar/vocal cord; normal cognition; no cardiac involvement; no GI involvement; CK 500-700 u/l 1 1 Johan den Dunnen
00423222 FamBPatII1 PubMed: Weihl 2022 3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Spain - - - - - MYOP diaphragmatic weakness with dyspnea; onset respiratory failure with respiratory arrest; dyspnea, patient on non-invasived respiratory support; normal muscle strength, only diaphragmatic weakness; normal gait; normal motor development; normal face; normal eyes; normal bulbar/vocal cord; normal cognition; hypertorophic cardiomyopathy; no GI involvement; CK normal 1 1 Johan den Dunnen
00423223 FamCPatII3 PubMed: Weihl 2022 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - MYOP 11y-deceased; rigid spine muscular dystrophy; onset difficult in bending or turning head sideways in addition to spine rigidity; respiratory failure and death at age of 11 yrs; normal muscle strength but with limited chest expansion and weak diaphragm muscles; normal gait but with rigid spine upto cervical region; no delay of motor milestones; spinal rigidity; normal face; normal eyes; normal bulbar/vocal cord; normal cognition; no cardiac involvement; no GI involvement; CK 350-400 u/l 1 2 Johan den Dunnen
00423224 FamCPatII5 PubMed: Weihl 2022 brother M yes Saudi Arabia - - - - - MYOP rigid spine muscular dystrophy; onset difficult in bending or turning head sideways in addition to spine rigidity; respiratory failure and is currently with tracheostomy and ventilator dependent at night and most of the day time; normal muscle strength but with limited chest expansion and weak diaphragm muscles; normal gait but with rigid spine upto cervical region; no delay of motor milestones; spinal rigidity; normal face; normal eyes; normal bulbar/vocal cord; normal cognition; no cardiac involvement; no GI involvement; CK 350-400 u/l 1 1 Johan den Dunnen
00426177 10SN8700 PubMed: Al-Kasbi 2022 patient, other affecteds in family M yes Oman - - - - - ID IUGR, recurrent pneumonia (lipoid), ventilator-dependent, inguinal hernia, thin corpus callosum and mild to moderate brain atrophy 1 1 Johan den Dunnen
00448687 - - - - yes - - - - - - MFM1;LGMD1D - 1 1 Corinne Metay
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