Juvenile muscular atrophy of a unilateral upper extremity (Hirayama disease) in a patient with CHARGE syndrome

T. Yagihashi, K. Hatori, K. Ishii, C. Torii, S. Momoshima, T. Takahashi, K. Kosaki

研究成果: Article査読

3 被引用数 (Scopus)

抄録

CHARGE syndrome is an autosomal dominant congenital anomaly syndrome, and the causative gene is CHD7. We report a patient with a CHD7 mutation who presented with juvenile muscular atrophy of a unilateral upper extremity, a presumably heterogeneous condition that is also known as Hirayama disease. This association has not been previously described. Weakness and atrophy of the hands should be carefully examined in patients with CHARGE syndrome, since Hirayama disease might be a possible complication in adolescent patients with this syndrome.

本文言語English
ページ(範囲)91-94
ページ数4
ジャーナルMolecular Syndromology
1
2
DOI
出版ステータスPublished - 2010

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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