All individuals with variants in gene MLIP

15 entries on 1 page. Showing entries 1 - 15.
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VIP     
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00430376 Pat1 PubMed: Lopes Abath Neto 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Egypt - - - - - MYOP see paper; ..., muscle cramping, rhabdomyolysis; no apparent triggers; CK 500-4000 U/l, highest 200000; MRI muscle subtle STIR hyperintensity on vastus lateralis 1 1 Johan den Dunnen
00430377 Pat2 PubMed: Lopes Abath Neto 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Japan - - - - - MYOP see paper; ..., myalgia on exertion, rhabdomyolysis; no apparent triggers; CK 2000 U/l, highest 4810; MRI muscle mild hyperintensity in bilateral gastrocnemius muscles 2 1 Johan den Dunnen
00430378 Pat3 PubMed: Lopes Abath Neto 2021 adopted F - China - - - - - MYOP see paper; ..., muscle cramping and stiffness on exertion, rhabdomyolysis; no apparent triggers; CK 500-3000 U/l, highest 32000; MRI muscle mild atrophy of quadratus femoris, subtle TIRM hyperintensities in the vastus lateralis 1 1 Johan den Dunnen
00430379 Pat4 PubMed: Lopes Abath Neto 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Afghanistan - - - - - MYOP see paper; ..., recurrent muscle pain and tenderness on exertion; no overt CK spikes; CK 2000-3000 U/l, highest 5000; 1 1 Johan den Dunnen
00430380 Pat5 PubMed: Lopes Abath Neto 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States Ireland;Germany;Italy;American-native - - - - MYOP see paper; ..., recurrent thigh pain (quadriceps) relieved by rest; no overt rhabdomyolysis; CK 297 U/l, highest 9348; MRI muscle normal 2 1 Johan den Dunnen
00430381 FamPat6 PubMed: Lopes Abath Neto 2021 2-generation family, 2 affected borthers, unaffected heterozygous carrier parents M no Morocco - - - - - MYOP see paper; ..., myalgia and severe episodes of rhabdomyolysis; trigger mild exercise, muscle overuse; CK 1287 U/l, highest 60000; MRI muscle normal 1 2 Johan den Dunnen
00430382 FamPat7 PubMed: Lopes Abath Neto 2021 brother M no Morocco - - - - - MYOP see paper; ..., myalgia and severe episodes of rhabdomyolysis; trigger tantrums, cold, mild exercise; CK 2325 U/l, highest 30000; MRI muscle normal 1 1 Johan den Dunnen
00430383 Fam1Pat1 PubMed: Salzer-Sheelo 2022 6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Israel Arab-Muslim - - - - MYOP see paper; ..., early fatigue after mild-to-moderate physical exertion, exertion-induced myalgia; ECG normal; CK 6600-16,000 U/L 1 1 Johan den Dunnen
00430384 Fam2Pat2 PubMed: Salzer-Sheelo 2022 7-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives F yes United States Amish - - - - MYOP sinus arrhythmia 1 4 Johan den Dunnen
00430385 Fam2Pat3 PubMed: Salzer-Sheelo 2022 brother M yes United States Amish - - - - MYOP sinus arrhythmia; CK 9330 U/L 1 1 Johan den Dunnen
00430386 Fam2Pat4 PubMed: Salzer-Sheelo 2022 relative M yes United States Amish - - - - MYOP sinus bradycardia; ; ECG abnormal; left ventricular hypertrophy; CK 8410 U/L 1 1 Johan den Dunnen
00430387 Fam2Pat5 PubMed: Salzer-Sheelo 2022 brother relative M yes United States Amish - - - - MYOP sinus bradycardia; CK 15,150 U/L 1 1 Johan den Dunnen
00430388 patient PubMed: Bermejo-Guerrero 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Spain - - - - - MYOP see paper; ..., late-onset progressive weakness 1 1 Johan den Dunnen
00430389 patient PubMed: Mezreani 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Canada - - - - - MYOP see paper; ..., myopathy, muscle weakness, hyperCKemia 1 1 Johan den Dunnen
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