Disease #01462

Official abbreviation NEM-3
Name myopathy, nemaline, type 3 (NEM-3)
OMIM ID 161800
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 192
Phenotype entries for this disease 188
Associated with 1 gene ACTA1
Associated tissues -
Disease features -
Remarks -


Individuals

192 entries on 2 pages. Showing entries 1 - 100.
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Genes screened

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00106168 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Alan Beggs
00106169 - PubMed: Laing et al, 2009 - - - (Germany) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106170 - PubMed: Laing et al, 2009 - - - (Belgium) - - 0 - - NEM-3 typical ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106171 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106175 - PubMed: Sparrow et al, 2003 - - - (France) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106176 - PubMed: Laing et al, 2009 - - - (Japan) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106177 - PubMed: Laing et al, 2009 - - - (Japan) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106178 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106179 - PubMed: Laing et al, 2009 - - - (Netherlands) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106180 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Alan Beggs
00106181 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - NEM-3 somatic mosaicism mother ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106182 - PubMed: Nowak et al, 2007, PubMed: Sparrow et al, 2003 - - - (France) - - 0 - - NEM-3 severe; required mechanical ventilation from birth, possibly affected cousin ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106183 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003 - - - (United States) - - 0 - - NEM-3 intranuclear rods ACTA1 ACTA1 1 1 Alan Beggs
00106184 - PubMed: Sparrow et al, 2003 - - - (Finland) - - 0 - - NEM-3 one intranuclear rod ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106185 - PubMed: Wallgren-Pettersson et al, 2001, PubMed: Sparrow et al, 2003, PubMed: Graziano et al, 2004 monozygotic twins - - (Italy) - - 0 - - NEM-3 typical ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106186 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 parents not tested - - (United States) - - 0 - - NEM-3 typical, age onset 21y/54y ACTA1 ACTA1 1 2 Alan Beggs
00106187 - PubMed: Sparrow et al, 2003 - - - (Belgium) - - 0 - - NEM-3 mild ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106188 - PubMed: Sparrow et al, 2003 - - - (Denmark) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106189 - PubMed: Laing et al, 2009 - - - (France) - - 0 - - NEM-3 severe/intermediate ; Disease severity in email from Norma 2.2.04. ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106191 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - NEM-3 typical, intranuclear rods ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106192 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 typical, age onset 7y/48y ACTA1 ACTA1 1 2 Alan Beggs
00106193 - PubMed: Ilkovski et al, 2004 - - - (Australia) - - 0 - - NEM-3 severe myopathy, nemaline, type 3 (NEM-3);AM ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106194 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106195 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Alan Beggs
00106196 - PubMed: Graziano et al, 2005 monozygous twins - - (Italy) - - 0 - - NEM-3 intermediate ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106197 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 severe; no spontaneous movement or respiratory effort at birth; ventilator dependent ACTA1 ACTA1 1 1 Alan Beggs
00106198 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106199 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 typical ACTA1 ACTA1 1 1 Alan Beggs
00106201 - PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 typical; 3y-wheelchair bound; both patients hypotonic in first months of life ACTA1 ACTA1 1 2 Alan Beggs
00106202 - PubMed: Laing et al, 2009 - - - (Germany) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106203 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, OMIM:var0001 sib1 from unaffected father and mother - - (United States) - - 0 - - NEM-3 , severe ACTA1 ACTA1 2 1 Nigel Laing & Kristen Nowak
00106204 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106206 - PubMed: Ilkovski et al, 2004 - - - (Australia) - - 0 - - NEM-3 arthrogryposis, contractures ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106207 - PubMed: Sparrow et al, 2003 - - - (Finland) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106209 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, PubMed: Ilkovski et al, 2001, OMIM:var0002 affected mother, sister and daugther - - (Australia) - - 0 - - NEM-3 typical ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106210 - PubMed: Sparrow et al, 2003 - - - (Finland) - - 0 - - NEM-3 mild ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106211 - PubMed: Sparrow et al, 2003 - - - - - - 0 - - NEM-3 mild ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106212 - PubMed: Sparrow et al, 2003 - - - (South Africa) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106213 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - NEM-3 mild ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106214 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106215 - PubMed: Nowak et al, 1999, PubMed: Junglbuth et al, 2001, PubMed: Sparrow et al, 2003 - - - (Finland) - - 0 - - NEM-3 mild ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106216 - PubMed: Sparrow et al, 2003 - - - (Spain) - - 0 - - NEM-3 mild ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106217 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - NEM-3 typical; no parental DNA ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106218 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 variant dominant, incompletely penetrant in mother and grandfather of proband - - (United States) - - 0 - - NEM-3 typical ACTA1 ACTA1 1 1 Alan Beggs
00106219 - PubMed: Schnell et al, 2000, PubMed: Ilkovski et al, 2001, PubMed: Sparrow et al, 2003, OMIM:var0008 - - - (Australia) - - 0 - - NEM-3 typical ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106221 - PubMed: Laing et al, 2009 - - - (Belgium) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106223 - PubMed: Sparrow et al, 2003 - - - (France) - - 0 - - NEM-3 intranuclear rods; isolated case, parents not tested ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106225 - PubMed: Sparrow et al, 2003 affected mother and son - - (France) - - 0 - - NEM-3 age onset 35y/10y ACTA1 ACTA1 1 2 Nigel Laing & Kristen Nowak
00106230 - PubMed: Sparrow et al, 2003 mother and daughter affected - - (France) - - 0 - - NEM-3 mild, age onset 50y/30y ACTA1 ACTA1 1 2 Nigel Laing & Kristen Nowak
00106232 - PubMed: Sparrow et al, 2003, PubMed: Schroder et al, 2004 - - - (Germany) - - 0 - - NEM-3 myopathy, nemaline, type 3 (NEM-3);AM;IRM ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106237 - PubMed: Sparrow et al, 2003, PubMed: Ilkovski et al, 2004, PubMed: Hutchinson et al, 2006, OMIM:var0014 - - - (New Zealand) - - 0 - - NEM-3 myopathy, nemaline, type 3 (NEM-3); IRM; age onset 64y/34y/33y/3y ACTA1 ACTA1 1 4 Nigel Laing & Kristen Nowak
00106239 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - NEM-3 severe; do not have parental DNA ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106240 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106241 - PubMed: Sparrow et al, 2003 - - - (United Kingdom (Great Britain)) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106242 - PubMed: Sparrow et al, 2003 - - - (France) - - 0 - - NEM-3 mild ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106243 - PubMed: Sparrow et al, 2003 - - - (France) - - 0 - - NEM-3 mild ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106244 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - NEM-3 intermediate ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106248 - PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Alan Beggs
00106249 - PubMed: Nowak et al, 2007 - - - (United Kingdom (Great Britain)) - - 0 - - NEM-3 intermediate ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106250 - PubMed: Nowak et al, 2007 - - - (United Kingdom (Great Britain)) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106251 - PubMed: Nowak et al, 2007 - - - (United Kingdom (Great Britain)) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106252 - PubMed: Nowak et al, 2007 - - - (United Kingdom (Great Britain)) - - 0 - - NEM-3 , severe; parental DNA not available, autosomal recessive, homozygous for the mutation ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106253 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 intermediate ACTA1 ACTA1 1 1 Alan Beggs
00106254 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 somatic mosaicm in father - - (France) - - 0 - - NEM-3 severe, age onset 1d/4d ACTA1 ACTA1 1 2 Nigel Laing & Kristen Nowak
00106255 - PubMed: Ilkovski et al, 2001, PubMed: Sparrow et al, 2003, PubMed: Ilkovski et al, 2004 - - - (Australia) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106256 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 intermediate ACTA1 ACTA1 1 1 Alan Beggs
00106257 - PubMed: Laing et al, 2009 - - - (France) - - 0 - - NEM-3 typical ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106258 - PubMed: Sparrow et al, 2003 - - - (France) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106260 - PubMed: Laing et al, 2009 - - - (Canada) - - 0 - - NEM-3 severe; Tyr190*, small A peak, may be mosaic? ACTA1 ACTA1 2 1 Nigel Laing & Kristen Nowak
00106261 - PubMed: Laing et al, 2009 - - - (France) - - 0 - - NEM-3 intermediate ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106262 - PubMed: Laing et al, 2009 - - - (Germany) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106263 - PubMed: Sparrow et al, 2003 - - - (Germany) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106264 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106265 - PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Alan Beggs
00106266 - PubMed: Laing et al, 2009 - - - (Netherlands) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106267 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106268 - PubMed: Laing et al, 2009 - - - (New Zealand) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106269 - PubMed: Laing et al, 2009 - - - (France) - - 0 - - NEM-3 adult onset, mild, progressive; dominant,segregation not confirmed ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106271 - PubMed: Graziano et al, 2004 - - - (Italy) - - 0 - - NEM-3 typical ACTA1 ACTA1 2 1 Nigel Laing & Kristen Nowak
00106273 - PubMed: Sparrow et al, 2003 - - - (Japan) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106274 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106275 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 typical ACTA1 ACTA1 1 1 Alan Beggs
00106276 - PubMed: Sparrow et al, 2003 - - - (Belgium) - - 0 - - NEM-3 typical ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106278 - PubMed: Sparrow et al, 2003 - - - (Germany) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106279 - PubMed: Laing et al, 2009 - - - (France) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106280 - PubMed: Sparrow et al, 2003 - - - (Finland) - - 0 - - NEM-3 age onset 31y/58y ACTA1 ACTA1 1 2 Nigel Laing & Kristen Nowak
00106281 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Alan Beggs
00106282 - PubMed: Laing et al, 2009 - - - (Canada) - - 0 - - NEM-3 rods pointed, lower limbs clearly weaker than upper limbs ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106284 - PubMed: Sparrow et al, 2003 - - - (Japan) - - 0 - - NEM-3 severe; first clinical diagnosis was SMA ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106285 - PubMed: Laing et al, 2009 Patient of Carina Wallgren-Pettersson, Helsinki - - - - - 0 - - NEM-3 severe; Disease severity stated in email from Carina to Dr Krcho, copied to Nigel Laing, 17.8.07 ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106286 - PubMed: Sparrow et al, 2003 - - - (United Kingdom (Great Britain)) - - 0 - - NEM-3 mild ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106287 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 mild, childhood onset; founders parents not tested; age onset 8y/14y/16y/39y/40y ACTA1 ACTA1 1 5 Alan Beggs
00106288 - PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Alan Beggs
00106289 - PubMed: Nowak et al, 1999, PubMed: Sparrow et al, 2003 - - - (Finland) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106290 - PubMed: Sparrow et al, 2003 - - - (Japan) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106291 - PubMed: Wallgren-Pettersson et al, 2001, PubMed: Sparrow et al, 2003, PubMed: Agrawal et al, 2004 - - - (United States) - - 0 - - NEM-3 severe; contractures, no spontaneous movement at birth ACTA1 ACTA1 2 1 Alan Beggs
00106292 - PubMed: Nowak et al, 1999, PubMed: Buxmann et al, 2001, PubMed: Sparrow et al, 2003 - - - (Germany) - - 0 - - NEM-3 severe ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106293 - PubMed: Laing et al, 2009 - - - (United Kingdom (Great Britain)) - - 0 - - NEM-3 typical; mother does not carry mutation, do not have paternal DNA ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106294 - PubMed: Laing et al, 2009 - - - (Finland) - - 0 - - NEM-3 typical ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
00106295 - PubMed: Graziano et al, 2004 - - - (Italy) - - 0 - - NEM-3 - ACTA1 ACTA1 1 1 Nigel Laing & Kristen Nowak
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