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Центронуклеарна міопатія

ORPHA:595· Centronuclear myopathy

Визначення(English summary)

A rare group of inherited neuromuscular disorders characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The clinical picture and other histologic features varies according to gene involved and mode of inheritance.

Поширеність
Unknown
Успадкування
Autosomal dominant, Autosomal recessive, X-linked recessive
Вік початку
Adolescent, Adult, Childhood, Infancy, Neonatal