scholarly journals A Case of Small Aorta Syndrome with Myotonic Dystrophy

2012 ◽  
Vol 52 (March) ◽  
pp. 181-184
Author(s):  
Masaya Nakashima ◽  
Hideaki Kobayashi ◽  
Masayoshi Kobayashi
Keyword(s):  
Myotonic Dystrophy ◽  
Small Aorta Syndrome

Cerebral white matter affection in myotonic dystrophy type 1 and 2: a diffusion-tensor-imaging study at 3T

2008 ◽  
Vol 35 (S 01) ◽  
Author(s):  
C Kornblum ◽  
J.C Schöne-Bake ◽  
S Mirbach ◽  
R.C Betz ◽  
C Helmstaedter ◽  
...  
Keyword(s):  
Diffusion Tensor Imaging ◽  
White Matter ◽  
Myotonic Dystrophy ◽  
Diffusion Tensor ◽  
Imaging Study ◽  
Cerebral White Matter ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Diffusion Tensor Imaging Study

Myotonic dystrophy: a rare cause of primary hypogonadism

2013 ◽  
pp. 1-1
Author(s):  
Alison Thorne ◽  
C M Iqbal ◽  
Deepa Beeharry ◽  
Tom Mayes ◽  
Shankar Upendram Srinivas
Keyword(s):  
Myotonic Dystrophy

A higher frequency of papillary thyroid carcinoma in myotonic dystrophy

2017 ◽  
Author(s):  
Hamou Adrien Ben ◽  
Claire Marie Dhaenens ◽  
Stephanie Espiard ◽  
Kanza Benomar ◽  
Vincent Tiffreau ◽  
...  
Keyword(s):  
Papillary Thyroid Carcinoma ◽  
Thyroid Carcinoma ◽  
Myotonic Dystrophy ◽  
Papillary Thyroid

Calcifying Epithelioma Accompanying Myotonic Dystrophy.

1998 ◽  
Vol 60 (3) ◽  
pp. 328-331 ◽  
Author(s):  
Tomoki OKUDA ◽  
Shinji OYAKE ◽  
Tsunao OH-I ◽  
Michiyuki KOGA
Keyword(s):  
Myotonic Dystrophy

SEVERE CONGENITAL MYOTONIC DYSTROPHY TYPE 1

2018 ◽  
Vol 97 (1) ◽  
pp. 78-81
Author(s):  
E.A. Mamaeva ◽  
◽  
L.A. Fedorova ◽  
S.E. Voronovich ◽  
V.D. Nazarov ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Congenital Myotonic Dystrophy

Myotonic dystrophy Rossolimo-Churchman-Steinert-Batten (clinical case)

2020 ◽  
pp. 71-72
Author(s):  
И.А. Синельникова ◽  
И.В. Сопрунова ◽  
О.П. Николаева
Keyword(s):  
Case Report ◽  
Myotonic Dystrophy ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Ctg Repeats ◽  
Molecular Genetic Method ◽  
Genetic Method ◽  
Family Case ◽  
Dmpk Gene

В статье представлено описание семейного случая миотонической дистрофии Россолимо-Штейнерта-Куршмана-Баттена. Диагноз подтвержден в результате ДНК-диагностики: выявлено увеличенное число копий CTG-повтора гена DMPK, ответственного за развитие миотонической дистрофии. A family case report of Rossolimo-Steinert-Curschmann myotonic dystrophy is presented. An increased number of copies of CTG-repeats of the DMPK gene responsible for the development of MD, i.e., the diagnosis was confirmed by molecular genetic method.

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