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Sporadic adult-onset distal myopathy with rimmed vacuoles, 15-18 nm tubulofilaments and extensive rod formation.

Abstract：

:Starting after the age of 35 years this German man had a slowly progressive distal myopathy greater in the legs than in the arms. First he realized gait difficulties with reduced ankle dorsiflexion. Serum creatine kinase activity was normal. Muscle biopsy studies showed myopathic changes, rimmed vacuoles and the presence of rods in 66% of the type 1 muscle fibers. Ultrastructural examination revealed cytoplasmatic aggregates of tubulofilaments measuring 15-18 nm in diameter, myeloid bodies and rod formation. The nosological situation of this distal myopathy with tubulofilamentous inclusions is discussed.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Sieb JP,VonOertzen J,Tolksdorf K,Dörfler P,Kappes-Horn K,Jerusalem F

doi

10.1016/s0022-510x(96)00264-x

subject

Has Abstract

pub_date

1997-02-27 00:00:00

pages

81-4

issue

1

eissn

0022-510X

issn

1878-5883

pii

S0022510X9600264X

journal_volume

146

pub_type

杂志文章

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