All individuals with variants in gene DNM2

90 entries on 1 page. Showing entries 1 - 90.
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00035625 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035626 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035627 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035628 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035629 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035630 - - - - - Germany - - 0 - - ? PNP 1 1 Andreas Laner
00035631 - - - - - Germany - - 0 - - ? suspected hereditary sensomotoric PNP, intermittend dysaesthesia 1 1 Andreas Laner
00035632 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035633 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00035634 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00054673 - PubMed: O'Grady 2016 - M - Australia - >22y 0 - - MDC infantile hypotonia, eventration of diaphragm, gross motor delay, mild facial weakness, ptosis, ophthalmoplegia, contractures, gastrostomy fed; CPK normal; IHC alphaDG; histology dystrophic 1 1 Sandra Cooper
00054675 Pat66 PubMed: O'Grady 2016 - F - Australia - >12y 0 - - MDC infantile onset, gross motor delay, proximal weakness, facial weakness, ptosis, ophthalmoplegia, contractures; CPK normal; IHC alphaDG; histology non-specific 1 1 Sandra Cooper
00056343 - - 4-generation family, 8 affecteds - - France - - 0 - - CNM1 - 1 8 Johan den Dunnen
00056344 - - - - - France - - 0 - - CNM1 - 1 1 Johan den Dunnen
00056345 - - - - - France - - 0 - - CNM1 - 1 1 Johan den Dunnen
00056346 - - 3-generation family, 6 affecteds - - France - - 0 - - CNM1 - 1 6 Johan den Dunnen
00056347 - - - - - Belgium - - 0 - - CNM1 - 1 1 Johan den Dunnen
00056348 - - - - - Belgium - - 0 - - CNM1 - 1 1 Johan den Dunnen
00056349 - - - - - United Kingdom (Great Britain) - - 0 - - CNM1 - 1 1 Johan den Dunnen
00056350 - - - - - United States - - 0 - - CNM1 - 1 1 Johan den Dunnen
00056351 - - - - - Germany - - 0 - - CNM1 - 1 1 Johan den Dunnen
00056352 - - 4-generation family, 4 affecteds - - Italy - - 0 - - CMT2 axonal CMT 1 4 Johan den Dunnen
00056353 - - - F - Brazil - >36y 0 - - CNM1 early onset; neonatal hypotonia, stable muscle involvement, ophthalmoparesis 1 1 Johan den Dunnen
00056354 - - 4-generation family, 3 affecteds - - Italy - - 0 - - CMT2 axonal CMT 1 3 Johan den Dunnen
00056355 - PubMed: Echaniz-Laguna 2007 2-generation family, 5 affecteds (mother, 3 daugthers, son) - - France - - 0 - - CNM1 mild cognitive impairment, mild axonal peripheral nerve involvement 1 5 Johan den Dunnen
00056356 - PubMed: Bitoun 2007 - - - Argentina - - 0 - - CNM1 neonatal hypotonia, weak suckling 1 1 Johan den Dunnen
00056357 - PubMed: Bitoun 2007 - - - Argentina - - 0 - - CNM1 neonatal hypotonia, weak suckling 1 1 Johan den Dunnen
00056358 - PubMed: Bitoun 2007 - - - Argentina - - 0 - - CNM1 neonatal hypotonia, weak suckling 1 1 Johan den Dunnen
00056359 - PubMed: Bitoun 2007 - - - France - - 0 - - CNM1 neonatal hypotonia, weak suckling 1 1 Johan den Dunnen
00056360 - PubMed: Bitoun 2007 - - - France - - 0 - - CNM1 neonatal hypotonia, weak suckling 1 1 Johan den Dunnen
00056361 - PubMed: Claeys 2009 2-generation family, 3 affecteds - - Spain - - 0 - - CMT2 - 1 3 Johan den Dunnen
00056362 - PubMed: Claeys 2009 5-generation family, 22 affecteds - - Australia - - 0 - - CMT2 neutropenia 1 22 Johan den Dunnen
00056363 - PubMed: Claeys 2009 4-generation family, 8 affecteds, 1 asymptomatic carrier - - Belgium - - 0 - - CMT2 neutropenia 1 9 Johan den Dunnen
00056364 - - - - - - - - 0 - - CMT2 congenital cataracts, ophthalmoparesis, ptosis, neutropenia 1 1 Johan den Dunnen
00056365 - - 3-generation family, 3 affecteds, 3 asymptomatic carriers - - Belgium - - 0 - - CMT2 - 1 6 Johan den Dunnen
00056366 - - 6-generation family, 21 affecteds - - United States - - 0 - - CMT2 - 1 21 Johan den Dunnen
00056367 - PubMed: Claeys 2009 3-generation family, 5 affecteds - - Netherlands - - 0 - - CMT2 - 1 5 Johan den Dunnen
00056368 - - - M - United States - - 0 - - CNM1 - 1 1 Tom Winder
00056369 - - - M - United States - - 0 - - CNM1 - 1 1 Tom Winder
00056370 - - - M - United States - - 0 - - CNM1 - 1 1 Tom Winder
00056371 - - - M - United States - - 0 - - CNM1 - 1 1 Tom Winder
00056372 - - - M - United States - - 0 - - CNM1 - 1 1 Tom Winder
00056373 - - - F - Sweden - - 0 - - MYOP mild, adult onset 1 1 Olivera Casar-Borota
00056374 - PubMed: Bitoun 2009 - F - - African, central - 0 - - CNM1 intermediate, onset end first decade, more rapid progression 1 1 Johan den Dunnen
00056375 - - large family - - Chile - - 0 - - CNM1 moderate, progressive 1 1 Johan den Dunnen
00056376 - PubMed: Melberg 2010 affected mother and daugther F - - Sweden - 0 - - MPD1 centronuclear myopathy, neonatal-onset 1 2 Johan den Dunnen
00056377 - - - - - - - - 0 - - MPD1 centronuclear myopathy with cataracts 1 1 Johan den Dunnen
00056378 - - 3-generation family, 14 affecteds - - Guiana, French - - 0 - - CNM1 milder, diffuse muscle hypertrophy 1 14 Johan den Dunnen
00056379 - - - - - France - - 0 - - CNM1 - 1 1 Johan den Dunnen
00274395 Pat8 PubMed: Park 2017 - M - Korea - - 0 - - MD weakness and contractures of ankle dorsiflexors ; muscle myopathic pattern with extensive central nuclei; elevated CK (434 IU/L); no family history 1 1 Johan den Dunnen
00288982 Pat36 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - MDC - 1 1 Johan den Dunnen
00288999 Pat53 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - MYOP - 1 1 Johan den Dunnen
00289000 Pat54 PubMed: Punetha 2016 analysis 94 myopathy cases - - - - - 0 - - MYOP - 1 1 Johan den Dunnen
00292021 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292022 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292023 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00292024 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00299986 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - CMT2 - 1 1 Johan den Dunnen
00300035 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - HMN - 1 1 Johan den Dunnen
00301658 - - - M - Germany - - 0 - - ? Pes cavus (HP:0001761); Toe walking (HP:0040083); Abnormal nerve conduction velocity (HP:0040129) 1 1 Andreas Laner
00307120 - - - M no France - - - - - CNM1 - 1 2 Mathieu Cerino
00314233 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
00314234 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
00314235 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
00314236 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
00377065 - - - M no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377069 - - - F no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377070 - - - M no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377071 - - - M no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377072 - - - F no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377073 - - - F no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377074 - - - F no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377075 - - - M no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377076 - - - F no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377077 - - - F no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377078 - - - M no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377079 - - - F no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377080 - - - F no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377081 - - - F no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377082 - - - M no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377083 - - - F no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00377086 - - - F no Japan - - - - - CNM1 - 1 1 Mariko Okubo
00398775 856 PubMed: Ferese 2021 2-generation family, 1 affected, family members unavailable for testing M - Italy - >67y - - - CMTDIB;CMT2M Peripheral neuropathy (HP:0009830), Decreased nerve conduction velocity (HP:0000762) 1 1 Yvet den Hartog
00398948 Fam45Pat51 PubMed: Natera-de Benito 2021 patient M - Spain - - 0 - - MYOP hypotonia, cervical weakness; 1y2m-walk, run; ptosis; ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, distal weakness; scoliosis (no surgery); 8y-no cardiac involvement; intellectual disability 1 1 Johan den Dunnen
00398949 Fam46Pat52 PubMed: Natera-de Benito 2021 patient M - Spain - - 0 - - MYOP ptosis; 1y2m-walk, run; ptosis; no ophthalmoplegia; facial weakness; no flexor weakness; proximal weaksness, distal weakness; 2y-no cardiac involvement 1 1 Johan den Dunnen
00398950 Fam47Pat53 PubMed: Natera-de Benito 2021 patient M - Spain - - 0 - - MYOP hypotonia, weakness; 2y-walk; ptosis; ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, distal weakness; 8y-nocturnal noninvasive ventilation; scoliosis (no surgery); 14y-no cardiac involvement 1 1 Johan den Dunnen
00399029 P72 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - 0 - - NMD serum CK normal; muscle biopsy internal nuclei 1 1 Johan den Dunnen
00399042 P99 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - 0 - - NMD serum CK normal; muscle biopsy internal nuclei 1 1 Johan den Dunnen
00399059 P125 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - 0 - - NMD serum CK 78 U/L; muscle biopsy myopathic changes; hypotonia, muscle weakness 1 1 Johan den Dunnen
00408687 Pat64 PubMed: Thomas 2022 no family history - no France - - 0 - - NMD - 1 1 Johan den Dunnen
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