Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families

Neurogenetics ◽  
2007 ◽  
Vol 9 (1) ◽  
pp. 61-63 ◽  
Author(s):  
Tsukasa Saito ◽  
Yoshinobu Amakusa ◽  
Takashi Kimura ◽  
Osamu Yahara ◽  
Hitoshi Aizawa ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type ◽  
Myotonic Dystrophy Type 2 ◽  
Ancestral Origin

Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2

2021 ◽  
pp. 1-8
Author(s):  
M.J. Damen ◽  
M.M.V.A.P. Schijvenaars ◽  
A.M. Schimmel Naber ◽  
J.M. Groothuismink ◽  
M.J.H. Coenen ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Tandem Repeats ◽  
Repeat Expansion ◽  
European Countries ◽  
Myotonic Dystrophy Type ◽  
Nucleotide Polymorphisms ◽  
Nucleic Acid Binding ◽  
Myotonic Dystrophy Type 2 ◽  
Ancestral Origin

Background: Myotonic dystrophy type 2 (DM2) is caused by a CCTG repeat expansion in intron 1 of the CCHC-Type Zinc Finger Nucleic Acid Binding Protein (CNBP) gene. Previous studies indicated that this repeat expansion originates from separate founders. Objective: This study was set out to determine whether or not patients with DM2 originating from European and non-European countries carry the previously described European founder haplotypes. Methods: Haplotype analysis was performed in 59 DM2 patients from 29 unrelated families. Twenty-three families were from European descent and 6 families originated from non-European countries (India, Suriname and Morocco). Seven short tandem repeats (CL3N122, CL3N99, CL3N59, CL3N117, CL3N119, CL3N19 and CL3N23) and 4 single nucleotide polymorphisms (SNP) (rs1871922, rs1384313, rs4303883 and CGAP_886192) in and around the CNBP gene were used to construct patients’ haplotypes. These haplotypes were compared to the known DM2 haplotypes to determine the ancestral origin of the CNBP repeat expansion. Results: Of 41 patients, the haplotype could be assigned to the previously described Caucasian haplotypes. Three patients from Morocco and Portugal had a haplotype identical to the earlier reported Moroccan haplotype. Twelve patients from India and Suriname, however, carried a haplotype that seems distinct from the previously reported haplotypes. Three individuals could not be assigned to a specific haplotype. Conclusion: The ancestral origin of DM2 in India might be distinct from the Caucasian families and the solely described Japanese patient. However, we were unable to establish this firmly due to the limited genetic variation in the region surrounding the CNBP gene.

Effect of exercise training on functional capacity and body composition in myotonic dystrophy type 2 patients

2020 ◽  
Author(s):  
Eleni Kontou ◽  
Constantinos Papadopoulos ◽  
Giorgos Papadimas ◽  
Argyris Toubekis ◽  
Gregory Bogdanis ◽  
...  
Keyword(s):  
Body Composition ◽  
Exercise Training ◽  
Myotonic Dystrophy ◽  
Functional Capacity ◽  
Myotonic Dystrophy Type ◽  
Myotonic Dystrophy Type 2

scholarly journals The risks of using non-specific outcome measures to capture activities of daily living in myotonic dystrophy type 2

2021 ◽  
Vol 31 (4) ◽  
pp. 367-368
Author(s):  
Tatiana Hamadeh ◽  
David S.H. Bovenkerk ◽  
Catharina G. Faber ◽  
Ingemar S.J. Merkies
Keyword(s):  
Activities Of Daily Living ◽  
Myotonic Dystrophy ◽  
Outcome Measures ◽  
Daily Living ◽  
Myotonic Dystrophy Type ◽  
Myotonic Dystrophy Type 2 ◽  
Specific Outcome

scholarly journals The Coexistence of Myasthenia Gravis and Myotonic Dystrophy Type 2 in a Single Patient

2013 ◽  
Vol 9 (2) ◽  
pp. 130 ◽  
Author(s):  
Ana Nikolic ◽  
Vidosava Rakocevic Stojanovic ◽  
Stanka Romac ◽  
Dusanka Savic ◽  
Ivana Basta ◽  
...  
Keyword(s):  
Myasthenia Gravis ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type ◽  
Single Patient ◽  
Myotonic Dystrophy Type 2

Myotonic dystrophy type 2 and related myotonic disorders

2004 ◽  
Vol 251 (10) ◽  
pp. 1173-1182 ◽  
Author(s):  
Giovanni Meola ◽  
Richard T. Moxley
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type ◽  
Myotonic Dystrophy Type 2

scholarly journals Brain sonography insight into the midbrain and basal ganglia in myotonic dystrophy type 2

2015 ◽  
Vol 357 ◽  
pp. e343
Author(s):  
V. Rakocevic-Stojanovic ◽  
S. Peric ◽  
D. Savic-Pavicevic ◽  
J. Pesovic ◽  
D. Lavrnic ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type ◽  
Myotonic Dystrophy Type 2 ◽  
Brain Sonography ◽  
Insight Into

Heart involvement in patients with myotonic dystrophy type 2

2018 ◽  
Vol 119 (1) ◽  
pp. 77-82 ◽  
Author(s):  
Stojan Peric ◽  
Bogdan Bjelica ◽  
Ksenija Aleksic ◽  
Masa Kovacevic ◽  
Edita Cvitan ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type ◽  
Myotonic Dystrophy Type 2 ◽  
Heart Involvement

scholarly journals Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients

2018 ◽  
Vol 1864 (3) ◽  
pp. 917-924 ◽  
Author(s):  
Massimo Santoro ◽  
Luana Fontana ◽  
Francesca Maiorca ◽  
Federica Centofanti ◽  
Roberto Massa ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type ◽  
Myotonic Dystrophy Type 2
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