Myotonia Congenita with Painful Muscle Cramps
スポンサーリンク
概要
- 論文の詳細を見る
A sporadic Japanese case of myotonia congenita with painful muscle cramps is reported. Electromyographic examinations disclosed myotonic discharge with dive bomber sounds at insertion, and high-amplitude, high-frequency motor unit potentials during the muscle cramps. Biopsied muscle specimens and EMG findings showed non-specific mild myopathic changes. There was no abnormal expansion of CTG repeat within the myotonic dystrophy gene. This patients disorder closely resembles Beckers myotonia congenita Type II though the family history of was non contributory.(Internal Medicine 35: 507-511, 1996)
- 社団法人 日本内科学会の論文
著者
-
Arahata Kiichi
Division Of Neuromuscular Research
-
Nakamura Akinori
Division Of Neuromuscular Research
-
Nonaka Ikuya
Division Of Ultrastructural Research National Center Of Neurology And Psychiatry
-
Nonaka Ikuya
Division Of Laboratory Medicine National Center Of Neurology And Psychiatry
-
SUNOHARA Nobuhiko
the Department of Neurology
-
TOMI Hideaki
the Department of Neurology
関連論文
- Functional and Morphological Abnormalities of Mitochondria in Human Cells Containing Mitochondrial DNA with Pathogenic Point Mutations in tRNA Genes
- A case of Werdnig-Hoffmann disease showing extensive sensory involvement after prolonged mechanical ventilation
- IMMUNOHISTOCHEMICAL STUDY OF DYSTROPHIN IN DUCHENNE MUSCULAR DYSTROPHY
- Unusual Fatty Infiltration of the Soleus Muscle in a Patient with Congenital Nemaline Myopathy: Fat-suppression Muscle MRI
- Antiserum against the Synthetic Polypeptide Fragment of Dystrophin Cross-reacts with Myofibrillar C-protein
- Myotonia Congenita with Painful Muscle Cramps
- Is nebulin the product of Duchenne muscular dystrophy gene?
- Unusual Fatty Infiltration of the Soleus Muscle in a Patient with Congenital Nemaline Myopathy: Fat-suppression Muscle MRI.
- Staining of the nemaline rods by fluorescent antibody against Z-protein.
- Gel electrophoretic study of nemaline muscle.