Mutated p.4894 RYR1 function related to malignant hyperthermia and congenital neuromuscular disease with uniform type 1 fiber (CNMDU1)

2011 ◽  
Vol 28 ◽  
pp. 143
Author(s):  
T. Haraki ◽  
T. Yasuda ◽  
K. Mukaida ◽  
T. Migita ◽  
H. Hamada ◽  
...  
Keyword(s):  
Malignant Hyperthermia ◽  
Neuromuscular Disease ◽  
Congenital Neuromuscular Disease

Mutated p.4894 RyR1 Function Related to Malignant Hyperthermia and Congenital Neuromuscular Disease with Uniform Type 1 Fiber (CNMDU1)

2011 ◽  
Vol 113 (6) ◽  
pp. 1461-1467 ◽  
Author(s):  
Toshiaki Haraki ◽  
Toshimichi Yasuda ◽  
Keiko Mukaida ◽  
Takako Migita ◽  
Hiroshi Hamada ◽  
...  
Keyword(s):  
Malignant Hyperthermia ◽  
Neuromuscular Disease ◽  
Congenital Neuromuscular Disease

scholarly journals A Case of Congenital Neuromuscular Disease with Uniform Type 1 Fiber

2004 ◽  
Vol 45 (1) ◽  
pp. 150 ◽  
Author(s):  
Sang Jun Na ◽  
Seong Woong Kang ◽  
Kee Oog Lee ◽  
Kyung Yul Lee ◽  
Tai Seung Kim ◽  
...  
Keyword(s):  
Neuromuscular Disease ◽  
Congenital Neuromuscular Disease

Brain atrophy in congenital neuromuscular disease with uniform type 1 fibers

1997 ◽  
Vol 16 (1) ◽  
pp. 56-58 ◽  
Author(s):  
Eun-Young Jung ◽  
Haruo Hattori ◽  
Yoshihisa Higuchi ◽  
Izuru Mitsuyoshi ◽  
Toyoko Kanda
Keyword(s):  
Brain Atrophy ◽  
Neuromuscular Disease ◽  
Congenital Neuromuscular Disease

scholarly journals Kyphoscoliosis associated with congenital neuromuscular disease with uniform type 1 fibers

2011 ◽  
Vol 21 (S4) ◽  
pp. 499-504 ◽  
Author(s):  
Shiro Imagama ◽  
Noriaki Kawakami ◽  
Taichi Tsuji ◽  
Tetsuya Ohara ◽  
Naoki Ishiguro
Keyword(s):  
Neuromuscular Disease ◽  
Congenital Neuromuscular Disease

A case of congenital neuromuscular disease with uniform type 1 fibers

2006 ◽  
Vol 28 (3) ◽  
pp. 202-205 ◽  
Author(s):  
Haruko Maeda Sakamoto ◽  
Mieko Yoshioka ◽  
Masahiro Tsuji ◽  
Shigekazu Kuroki ◽  
Yoshihisa Higuchi ◽  
...  
Keyword(s):  
Neuromuscular Disease ◽  
Congenital Neuromuscular Disease

Ophthalmoplegia in congenital neuromuscular disease with uniform type 1 fiber

2015 ◽  
Vol 37 (4) ◽  
pp. 459-462 ◽  
Author(s):  
Oranee Sanmaneechai ◽  
Surachai Likasitwattanakul ◽  
Tumtip Sangruchi ◽  
Ichizo Nishino
Keyword(s):  
Neuromuscular Disease ◽  
Congenital Neuromuscular Disease

Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation

Neurology ◽  
2007 ◽  
Vol 70 (2) ◽  
pp. 114-122 ◽  
Author(s):  
I. Sato ◽  
S. Wu ◽  
M. C. A. Ibarra ◽  
Y. K. Hayashi ◽  
H. Fujita ◽  
...  
Keyword(s):  
Neuromuscular Disease ◽  
Congenital Neuromuscular Disease

CONGENITAL NEUROMUSCULAR DISEASE WITH UNIFORM TYPE-1 FIBERS SIMULTANEOUSLY PRESENTING GLUTEAL MUSCLES CONTRACTURE AND BRAIN ATROPHY: A CASE REPORT

2010 ◽  
Vol 13 (04) ◽  
pp. 203-207
Author(s):  
Xihua Li ◽  
Jing Zhang ◽  
Xuee Cui ◽  
Lei Zhao ◽  
Pinquan Shen ◽  
...  
Keyword(s):  
Case Report ◽  
Brain Atrophy ◽  
Neuromuscular Disease ◽  
Brain Mri ◽  
Gluteal Muscle ◽  
Muscle Contracture ◽  
First Case ◽  
Gluteal Muscle Contracture ◽  
Congenital Neuromuscular Disease

We report the clinical presentation and pathological findings of congenital neuromuscular disease with uniform type-1 fibers presenting on an 11-year-old girl with the clinical diagnosis of unilateral (right-side) gluteal contracture and brain atrophy. CT image showed that right gluteus maximus muscle was atrophic. Brain MRI showed mild bilateral ventricular dilation and widening of the lateral fissure. A biopsy of quadriceps muscle revealed only uniformity of type-1 fibers with the absence of cores, and mild decrease of activity on oxidative enzyme staining. Although the exact cause of congenital gluteal muscle contracture is still not clear, we presume that the congenital gluteal muscle contracture may be caused by the neuromuscular disease with uniform type-1 fibers and this is the first case report of neuromuscular disease with uniform type-1 fibers complicated with brain atrophy in China.

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