An adulthood progressive case of congenital nemaline myopathy showing rimmed vacuoles in muscle biopsy and diffuse neurogenic changes on electromyography

Koji Ikezoe, Hiroyuki Murai, Masakazu Kawajiri, Yasumasa Ohyagi, Jun Ichi Kira

研究成果: ジャーナルへの寄稿記事

抄録

A 29-year-old woman with benign congenital nemaline myopathy is reported. She did not walk until the age of one year and seven months. Although she acquired the ability to run, she ran very slowly. She first noticed the progression of weakness of the limbs at age 21, and it worsened gradually. On admission, she showed moderate weakness in the face, neck, and four limbs. Serum creatine kinase was elevated to 218 U/l. Needle electromyography showed giant and polyphasic motor unit potentials with a reduced reference pattern in the four limbs diffusely. In muscle biopsy, about 10% of fibers had many small vacuoles, and half of them were rimmed. Modified Gomori trichrome stain revealed nemaline rods in about 20% of both type I and type II fibers. Fibers with large diameter and atrophic ones showed increased acid phosphatase activity. Type I fibers were small, and type II fibers numbered only 2%. We diagnosed her illness as a congenital nemaline myopathy that began in infancy and progressed in adulthood. The increased autophagic activity probably caused the progression of muscle weakness. Moreover, the presence of both nemaline rods and rimmed vacuoles may have contributed to the development of diffuse neurogenic changes seen in electromyography.

元の言語英語
ページ(範囲)450-453
ページ数4
ジャーナルClinical Neurology
44
発行部数7
出版物ステータス出版済み - 7 1 2004

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Nemaline Myopathies
Myotonia Congenita
Electromyography
Vacuoles
Extremities
Biopsy
Muscles
Muscle Weakness
Creatine Kinase
Acid Phosphatase
Needles
Neck
Serum

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

これを引用

An adulthood progressive case of congenital nemaline myopathy showing rimmed vacuoles in muscle biopsy and diffuse neurogenic changes on electromyography. / Ikezoe, Koji; Murai, Hiroyuki; Kawajiri, Masakazu; Ohyagi, Yasumasa; Kira, Jun Ichi.

:: Clinical Neurology, 巻 44, 番号 7, 01.07.2004, p. 450-453.

研究成果: ジャーナルへの寄稿記事

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abstract = "A 29-year-old woman with benign congenital nemaline myopathy is reported. She did not walk until the age of one year and seven months. Although she acquired the ability to run, she ran very slowly. She first noticed the progression of weakness of the limbs at age 21, and it worsened gradually. On admission, she showed moderate weakness in the face, neck, and four limbs. Serum creatine kinase was elevated to 218 U/l. Needle electromyography showed giant and polyphasic motor unit potentials with a reduced reference pattern in the four limbs diffusely. In muscle biopsy, about 10{\%} of fibers had many small vacuoles, and half of them were rimmed. Modified Gomori trichrome stain revealed nemaline rods in about 20{\%} of both type I and type II fibers. Fibers with large diameter and atrophic ones showed increased acid phosphatase activity. Type I fibers were small, and type II fibers numbered only 2{\%}. We diagnosed her illness as a congenital nemaline myopathy that began in infancy and progressed in adulthood. The increased autophagic activity probably caused the progression of muscle weakness. Moreover, the presence of both nemaline rods and rimmed vacuoles may have contributed to the development of diffuse neurogenic changes seen in electromyography.",
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T1 - An adulthood progressive case of congenital nemaline myopathy showing rimmed vacuoles in muscle biopsy and diffuse neurogenic changes on electromyography

AU - Ikezoe, Koji

AU - Murai, Hiroyuki

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AU - Ohyagi, Yasumasa

AU - Kira, Jun Ichi

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