All individuals with variants in gene NEB

379 entries on 4 pages. Showing entries 1 - 100.
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00000062 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 Global Variome, with Curator vacancy
00027165 - PubMed: Yuen 2014, Journal: Yuen 2014 brother 11a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents M ? Sweden - 5m 0 - - NEM severe congenital nemaline myopathy; deceased (5m); polyhydramnios, arthrogryposis 1 2 Johan den Dunnen
00036311 - - - - - Germany - - 0 - - ? suspected Nemaline-Myopathie 1 1 Andreas Laner
00036312 - - - - - Germany - - 0 - - ? suspected Nemaline-Myopathie 1 1 Andreas Laner
00036313 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036314 - - - - - Germany - - 0 - - ? suspected Nemaline-Myopathie 1 1 Andreas Laner
00036315 - - - - - Germany - - 0 - - ? suspected Nemaline-Myopathie 1 1 Andreas Laner
00036316 - - - - - Germany - - 0 - - ? suspected myasthenia; other patient: suspected hereditary myopathy (autosomal-rezessiv), Nemalinopathie 1 1 Andreas Laner
00036317 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036318 - - - - - Germany - - 0 - - ? suspected Nemaline-Myopathie 1 1 Andreas Laner
00036319 - - - - - Germany - - 0 - - ? suspected Nemaline-Myopathie 1 1 Andreas Laner
00036320 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036321 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036322 - - - - - Germany - - 0 - - ? suspected hereditary myopathy (autosomal-rezessiv) , Nemalinopathie 1 1 Andreas Laner
00036323 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036324 - - - - - Germany - - 0 - - ? suspected Nemaline-Myopathie 1 1 Andreas Laner
00036325 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036326 - - - - - Germany - - 0 - - ? suspected Nemaline-Myopathie 1 1 Andreas Laner
00036327 - - - - - Germany - - 0 - - ? suspected Nemaline-Myopathie 1 1 Andreas Laner
00036328 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036329 - - - - - Germany - - 0 - - ? suspected myasthenia; MGZ #67033: suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I; MGZ #42755: suspected myopathy 1 1 Andreas Laner
00036330 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036331 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036332 - - - - - Germany - - 0 - - ? suspected myasthenia; MGZ #67033: suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I; MGZ #42755: suspected myopathy 1 1 Andreas Laner
00036333 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036334 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036335 - - - - - Germany - - 0 - - ? suspected Nemaline-Myopathie 1 1 Andreas Laner
00036336 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036337 - - - - - Germany - - 0 - - ? suspected myopathy 1 1 Andreas Laner
00036338 - - - - - Germany - - 0 - - ? suspected Nemaline-Myopathie 1 1 Andreas Laner
00036339 - - - - - Germany - - 0 - - ? suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ 1 1 Andreas Laner
00036340 - - - - - Germany - - 0 - - ? suspected Nemaline-Myopathie 1 1 Andreas Laner
00036341 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036342 - - - - - Germany - - 0 - - ? suspected myopathy 1 1 Andreas Laner
00036343 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036344 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036345 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036346 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036347 - - - - - Germany - - 0 - - ? suspected myasthenia; MGZ #67033: suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I; MGZ #42755: suspected myopathy 1 1 Andreas Laner
00036348 - - - - - Germany - - 0 - - ? MGZ #67033: suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I; MGZ #42755: suspected myopathy 1 1 Andreas Laner
00036349 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036350 - - - - - Germany - - 0 - - ? suspected myasthenia; other patient: suspected myopathy 1 1 Andreas Laner
00036351 - - - - - Germany - - 0 - - ? suspected hereditary myopathy (autosomal-rezessiv) , Nemalinopathie 1 1 Andreas Laner
00036352 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036353 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036354 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036355 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036356 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036357 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036358 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036359 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036360 - - - - - Germany - - 0 - - ? suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I 1 1 Andreas Laner
00036361 - - - - - Germany - - 0 - - ? suspected hereditary myopathy (autosomal-rezessiv) , Nemalinopathie 1 1 Andreas Laner
00036362 - - - - - Germany - - 0 - - ? suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I 1 1 Andreas Laner
00036363 - - - - - Germany - - 0 - - ? suspected myopathy 1 1 Andreas Laner
00036364 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036365 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036366 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036367 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036368 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036369 - - - - - Germany - - 0 - - ? suspected myasthenia; other patient: suspected myopathy 1 1 Andreas Laner
00036370 - - - - - Germany - - 0 - - ? suspected myasthenia; other patient: suspected myopathy 1 1 Andreas Laner
00036371 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036372 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036373 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036374 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036375 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036376 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036377 - - - - - Germany - - 0 - - ? polyposis 1 1 Andreas Laner
00036378 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036379 - - - - - Germany - - 0 - - ? suspected hereditary myopathy (autosomal-rezessiv) , Nemalinopathie 1 1 Andreas Laner
00036380 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036381 - - - - - Germany - - 0 - - ? suspected Nemaline-Myopathie 1 1 Andreas Laner
00036382 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036383 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036384 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036385 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036386 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036387 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036388 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00036389 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036390 - - - - - Germany - - 0 - - ? suspected myasthenia; other patient: suspected nemaline Strukturmyopathie DD myotone Dystrophie Typ I 1 1 Andreas Laner
00036391 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00036392 - - - - - Germany - - 0 - - ? suspected myasthenia 1 1 Andreas Laner
00154678 - - - - - United States - <1y 0 - - NEM form unknown 2 1 Tom Winder
00163746 BOS1053 Congenital fiber type disproportion with cardiomyopathy associated with variants in MYL2 and NEB Marttila, M., Al Ghamdi, F., Abdel-Hamid, H., Lacomis, D., Beggs, A. H. - M no United States - - 0 - - CFTD CFTD with ilated cardiomyopathy (HP:0001644), congenital 1 1 Minttu Marttila
00165245 FamPatI3/II2/III3 Kiiski & Lehtokari, submmitted 3-generation family, affected maternal grandmother (I3), mother (II2) and son (III3) F;M - Finland - - 0 - - NEM - 1 3 Vilma-Lotta Lehtokari
00207794 - - - F - Germany - - 0 - - - HP:0001263 (Global developmental delay) 2 1 Andreas Laner
00207800 - - - M - Germany - - 0 - - - HP:0003473 (Fatigable weakness) 1 1 Andreas Laner
00207960 - - - M - Germany - - 0 - - - HP:0006785 (Limb-girdle muscular dystrophy) 1 1 Andreas Laner
00208792 - - - M - Germany - - 0 - - - HP:0001324 (Muscle weakness); HP:0009027 (Foot dorsiflexor weakness); HP:0030236 (Abnormality of muscle size); HP:0007340 (Lower limb muscle weakness) 1 1 Andreas Laner
00210164 - - - F - Germany - - 0 - - - - 1 1 Andreas Laner
00210177 - - - F - Germany - - 0 - - - HP:0040081 (Abnormal levels of creatine kinase in blood); HP:0001249 (Intellectual disability); HP:0003236 (Elevated serum creatine phosphokinase) 2 1 Andreas Laner
00210183 - - - M - Germany - - 0 - - - - 2 1 Andreas Laner
00216960 - PubMed: Wallgren-Pettersson 1998 FAM28 Lehtokari 2006 (Fam1 Pelin 1999); 2 generation family, 2 affected brothers, unaffected carrier father M - United Kingdom (Great Britain) - - 0 - - NEM typical; onset in infancy, muscle weakness most pronounced in facial muscles, neck, flexors and proximal muscles of the limbs; no contractures at birth 2 3 Johan den Dunnen
00216961 - PubMed: Wallgren-Pettersson 1998 FAM31 (Fam2, 1999) F - Finland - - 0 - - NEM typical; onset in infancy, muscle weakness most pronounced in facial muscles, neck, flexors and proximal muscles of the limbs; no contractures at birth 2 2 Johan den Dunnen
00216962 - PubMed: Wallgren-Pettersson 1998 FAM3 (Fam3 1999); 2 generation family, 2 affected children, unaffected parents - - France - - 0 - - NEM severe; onset in infancy, muscle weakness most pronounced in facial muscles, neck, flexors and proximal muscles of the limbs; no contractures at birth 2 2 Johan den Dunnen
00216963 - PubMed: Wallgren-Pettersson 1998 FAM21 (Fam4, 1999), German family, Turkish descent, unaffected parents - yes Turkey - - 0 - - NEM typical; onset in infancy, muscle weakness most pronounced in facial muscles, neck, flexors and proximal muscles of the limbs; no contractures at birth 2 2 Johan den Dunnen
00216964 15221447 PubMed: Anderson 2004, OMIM:var0007 2 families with 1 or more affecteds - - United States Ashkenazi Jewish - 0 - - NEM - 2 2 Johan den Dunnen
00216965 - PubMed: Wallgren-Pettersson 1998 FAM23 (Fam5 1999), unaffected parents - yes United Kingdom (Great Britain) - - 0 - - NEM typical: onset in infancy, muscle weakness most pronounced in facial muscles, neck, flexors and proximal muscles of the limbs; no contractures at birth 2 2 Johan den Dunnen
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