[Infantile form of nemaline (rod inclusion) myopathy].

Abstract:

:This paper reports the first Austrian case of infantile nemaline myopathy in a girl aged 19 years, presenting with congenital skeletal dysplasia, reduced body weight and slowly progressive limb girdle muscular atrophy, myopathic face and difficulty in swallowing. Electromyography revealed a combination of myopathic and neurogenic lesions, while electron microscopy of a muscle biopsy established the diagnosis. The patient's mother and two elder brothers showed no clinical features of the disease, but neurophysiological abnormalities were present, indicating an asymptomatic form of illness. The aetiology and pathogenesis of nemaline myopathy are unknown, but neurogenic factors cannot be excluded.

journal_name

Wien Klin Wochenschr

authors

Berger W,Grisold W,Jellinger K

subject

Has Abstract

pub_date

1988-06-10 00:00:00

pages

407-12

issue

12

eissn

0043-5325

issn

1613-7671

journal_volume

100

pub_type

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