Disease #04164 (NEM (myopathy, nemaline (NEM)))

Official abbreviation NEM
Name myopathy, nemaline (NEM)
OMIM ID -
Inheritance -
Individuals reported having this disease 471
Phenotype entries for this disease 470
Associated with 4 genes CFL2, KLHL40, KLHL41, NEB
Associated tissues -
Disease features -
Remarks -
Date created 2014-12-22 16:43:09 +01:00 (CET)
Date last edited 2018-07-06 19:02:59 +02:00 (CEST)


Individuals

471 entries on 5 pages. Showing entries 1 - 100.
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00027154 - PubMed: Yuen 2014, Journal: Yuen 2014 sister 1a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents F yes Algeria - <00y00m28d - - - NEM severe congenital nemaline myopathy; deceased (neonatal period, <28d); polyhydramnios, preterm delivery (30/40), arthrogryposis, fractures (bilateral femoral) LMOD3 LMOD3 1 2 Johan den Dunnen
00027155 - PubMed: Yuen 2014, Journal: Yuen 2014 sister 1b F yes Algeria - <00y00m28d - - - NEM severe congenital nemaline myopathy; deceased (neonatal period, <28d); preterm delivery (36/40) LMOD3 LMOD3 1 1 Johan den Dunnen
00027156 - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? Belgium - 10m - - - NEM severe congenital nemaline myopathy; decreased fetal movements, breech presentation, arthrogryposis, ophthalmoplegia LMOD3 LMOD3 1 1 Johan den Dunnen
00027157 - PubMed: Yuen 2014, Journal: Yuen 2014 sister 3a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents F ? Portugal - <00y00m28d - - - NEM severe congenital nemaline myopathy; deceased (neonatal period); polyhydramnios, decreased fetal movements, contractures LMOD3 LMOD3 1 2 Johan den Dunnen
00027158 - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? Japan - >4m - - - NEM severe congenital nemaline myopathy; alive 4m, lost to follow-up LMOD3 LMOD3 1 1 Johan den Dunnen
00027159 - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - >2m - - - NEM severe congenital nemaline myopathy; alive 2m, lost to follow-up; polyhydramnios, decreased fetal movements, subdural hematoma LMOD3 LMOD3 2 1 Johan den Dunnen
00027160 - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F ? Japan - >10m - - - NEM severe congenital nemaline myopathy; alive 10m, lost to follow-up; polyhydramnios, decreased fetal movements, fetal edema, preterm delivery (32/40), microcephaly, contractures LMOD3 LMOD3 1 1 Johan den Dunnen
00027161 - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - >01y07m - - - NEM severe congenital nemaline myopathy; alive 1y7m, lost to follow-up; polyhydramnios, decreased fetal movements, ophthalmoplegia LMOD3 LMOD3 2 1 Johan den Dunnen
00027162 - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - America, south <00y00m28d - - - NEM severe congenital nemaline myopathy; deceased (neonatal period) LMOD3 LMOD3 2 1 Johan den Dunnen
00027163 - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F ? Italy - 4m - - - NEM severe congenital nemaline myopathy; deceased (4m); polyhydramnios, decreased fetal movements, preterm delivery (34/40), ophthalmoplegia, contractures LMOD3 LMOD3 1 1 Johan den Dunnen
00027164 - PubMed: Yuen 2014, Journal: Yuen 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Ecuador - 1m15d - - - NEM severe congenital nemaline myopathy; deceased (6w); polyhydramnios, decreased fetal movements, preterm delivery (35/40), breech presentation, ophthalmoplegia, arthrogryposis, fractures (bilateral humeral) LMOD3 LMOD3 2 1 Johan den Dunnen
00027165 - PubMed: Yuen 2014, Journal: Yuen 2014 brother 11a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents M ? Sweden - 5m - - - NEM severe congenital nemaline myopathy; deceased (5m); polyhydramnios, arthrogryposis LMOD3, NEB LMOD3, NEB 2 2 Johan den Dunnen
00027166 - PubMed: Yuen 2014, Journal: Yuen 2014 brother 12a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents M ? Afghanistan - 2m - - - NEM severe congenital nemaline myopathy; deceased (2m); absent fetal movements, preterm delivery (31/40), breech presentation, arthrogryposis LMOD3 LMOD3 1 3 Johan den Dunnen
00027167 - PubMed: Yuen 2014, Journal: Yuen 2014 sister 13a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents F ? Pakistan - 3m - - - NEM severe congenital nemaline myopathy; deceased (3m); polyhydramnios, breech presentation, ophthalmoplegia, kyphosis LMOD3 LMOD3 1 2 Johan den Dunnen
00027168 - PubMed: Yuen 2014, Journal: Yuen 2014 sister 14a; 2-generation family, 2 affecteds sisters, unaffected heterozygous carrier parents F no Australia - >10y - - - NEM typical congenital nemaline myopathy; alive (10y); polyhydramnios, decreased fetal movements, bulbar weakness, ophthalmoplegia, percutaneous endoscopic gastrostomy, nocturnal noninvasive ventilation.; walks independently; normal cardiac assessment and echocardiogram LMOD3 LMOD3 2 2 Johan den Dunnen
00027169 - PubMed: Yuen 2014, Journal: Yuen 2014 sister 3b F ? Portugal - >1m - - - NEM severe congenital nemaline myopathy; alive 1m, lost to follow-up; polyhydramnios, contractures LMOD3 LMOD3 1 1 Johan den Dunnen
00027170 - PubMed: Yuen 2014, Journal: Yuen 2014 brother 11b M ? Sweden - <00y00m28d - - - NEM severe congenital nemaline myopathy; deceased (neonatal period) LMOD3 LMOD3 1 1 Johan den Dunnen
00027171 - PubMed: Yuen 2014, Journal: Yuen 2014 brother 12b M ? Afghanistan - <00y00m28d - - - NEM severe congenital nemaline myopathy; deceased (neonatal period); preterm delivery (33/40), arthrogryposis LMOD3 LMOD3 1 1 Johan den Dunnen
00027172 - PubMed: Yuen 2014, Journal: Yuen 2014 affected fetus 12c - ? Afghanistan - <0d - - - NEM severe congenital nemaline myopathy; affected fetus LMOD3 LMOD3 1 1 Johan den Dunnen
00027173 - PubMed: Yuen 2014, Journal: Yuen 2014 sister 13b F ? Pakistan - <00y00m28d - - - NEM severe congenital nemaline myopathy; deceased (neonatal period);polyhydramnios, decreased fetal movements. LMOD3 LMOD3 1 1 Johan den Dunnen
00027174 - PubMed: Yuen 2014, Journal: Yuen 2014 sister 14b F no Australia - >4y - - - NEM typical congenital nemaline myopathy; alive (4y); polyhydramnios, bulbar weakness, percutaneous endoscopic gastrostomy, nocturnal noninvasive ventilation; walks with truncal support; nNormal cardiac assessment and echocardiogram LMOD3 LMOD3 2 1 Johan den Dunnen
00079680 - PubMed: Ravenscroft 2013 Family 31 - ? Viet Nam Vietnamese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 2 1 Gianina Ravenscroft
00079681 - PubMed: Ravenscroft 2013 Family 2 - ? Italy Italian - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079682 - PubMed: Ravenscroft 2013 Family 3 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079683 - PubMed: Ravenscroft 2013 Family 5 - ? Israel Israeli - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079684 - PubMed: Ravenscroft 2013 Family 6 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079685 - PubMed: Ravenscroft 2013 Family 7 - ? Norway Norwegian - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079686 - PubMed: Ravenscroft 2013 Family 9 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079687 Family 10 PubMed: Ravenscroft 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M ? China Chinese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 2 1 Gianina Ravenscroft
00079688 - PubMed: Ravenscroft 2013 Family 34 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 2 1 Gianina Ravenscroft
00079689 - PubMed: Ravenscroft 2013 Family 12 - ? Japan Japanese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 2 1 Gianina Ravenscroft
00079690 - PubMed: Ravenscroft 2013 Family 13 - ? Korea Korean - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 2 1 Gianina Ravenscroft
00079691 - PubMed: Ravenscroft 2013 Family 14 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079692 - PubMed: Ravenscroft 2013 Family 15 - ? Japan Japanese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079693 - PubMed: Ravenscroft 2013 Family 16 - ? Japan Japanese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 2 1 Gianina Ravenscroft
00079694 Family 17 PubMed: Ravenscroft 2013 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Turkey Turkish - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 2 Gianina Ravenscroft
00079695 - PubMed: Ravenscroft 2013 Family 18 - ? - Kurdish - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079696 - PubMed: Ravenscroft 2013 Family 19 - ? - Kurdish - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079697 - PubMed: Ravenscroft 2013 Family 20 - ? Japan Japanese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079698 - PubMed: Ravenscroft 2013 Family 21 - ? Japan Japanese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079699 - PubMed: Ravenscroft 2013 Family 22 - ? Japan Japanese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079700 - PubMed: Ravenscroft 2013 Family 23 - ? Japan Japanese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079701 - PubMed: Ravenscroft 2013 Family 24 - ? Japan Japanese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079702 - PubMed: Ravenscroft 2013 Family 25 - ? Japan Japanese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079703 - PubMed: Ravenscroft 2013 Family 26 - ? Japan Japanese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079704 - PubMed: Ravenscroft 2013 Family 27 - ? Japan Japanese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079705 - PubMed: Ravenscroft 2013 Family 28 - ? Japan Japanese - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079706 - PubMed: Ravenscroft 2013 Family 29 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079707 - PubMed: Lammens 1997 Family 30 - ? Turkey Turkish - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00079708 Fam16 PubMed: Todd 2015 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes Australia - - - - - NEM Familial, autosomal recessive KLHL40 KLHL40 1 1 Gianina Ravenscroft
00106208 - PubMed: Laing et al, 2009 - - - (Finland) - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106322 - PubMed: Laing et al, 2009 - - - (France) - - - - - NEM mild; intranuclear rods; Disease severity and fact biopsy has intranuclear rods in email from Isabelle Penisson-Besnier to Nigel Laing 6.9.04 ACTA1 ACTA1 1 1 Kristen Nowak
00106358 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106359 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106360 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106361 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106362 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106363 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106364 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106365 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106366 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106367 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106368 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106369 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106370 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106371 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106372 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106373 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 2 1 Kristen Nowak
00106374 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106375 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106376 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106377 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 2 1 Kristen Nowak
00106378 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106379 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106380 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106381 - PubMed: Laing et al, 2009PubMed: Levesque et al 2013 - - - United States - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106382 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106383 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106384 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106385 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106386 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106387 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106388 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106389 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106390 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106391 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106392 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106393 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106394 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106395 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106396 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106397 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106398 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106399 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106400 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106401 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106402 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106403 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
00106414 - PubMed: Arai et al, 2009 PubMed: Laing et al, 2009 - M - - - - - - - NEM actin intranuclear rod and nemaline myopathy; diagnosed as actin myopathy, based on the cytoplasmic accumulation of thin filament aggregates. Intranuclear rods and dispersed, tiny nemaline bodies were also seen. n addition, the patient also showed supraorbital cranial sclerosis and striation of the iliac bone, which were reminiscent of the findings in osteopathia striata-cranial sclerosis. Hepatomegaly, undescended testis, right ureter-bladder constriction, and dilatation of lateral ventricles with signal change in the periventicular white matter were also noted. These may contribute to broaden the spectrum of actinopathy phenotypes. ACTA1 ACTA1 1 1 Kristen Nowak
00106415 - PubMed: Laing et al, 2009 - - - - - - - - - NEM NEM requested ACTA1 ACTA1 1 1 Kristen Nowak
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