A Case of Childhood Onset Nemaline Myopathy

Autor:	Seiichi Miyafusa, Isematsu Eda, Takayuki Satake, Chie Yasutake, Takeshi Tokito
Rok vydání:	1991
Předmět:	Weakness Muscle biopsy medicine.diagnostic_test business.industry Skeletal muscle Muscle weakness Anatomy Rod bodies medicine.disease Muscle atrophy medicine.anatomical_structure Nemaline myopathy medicine medicine.symptom business
Zdroj:	Orthopedics & Traumatology. 40:465-469
ISSN:	1349-4333 0037-1033
DOI:	10.5035/nishiseisai.40.465
Popis:	Nemaline myopathy is one of congenital myopathies, and Shy and co-workers described as a nonprogressive disease of skeletal muscle, which was associated with the presence of nemaline (rodlike structures) in muscle fibers (1963).The present case report concerns a ten-year-old girl, who complained “running slow” chiefly. She represented proximal dominant muscle atrophy and weakness, and the muscle weakess is progressive. Muscle biopsy findings revealed typical rod bodies, hypoplastic type I fiber, and type I fiber predominance, thus we diagnosed the case as nemaline myopathy. We found out her respiratory system disorder due to muscle weakness, so we mean to do a careful clinical follow-up.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::4f3012fea83cef56f5b415412f712991 https://doi.org/10.5035/nishiseisai.40.465 Zobrazit plný text záznamu