Sporadic distal myopathy with early adult onset: study of muscle biopsies and muscle cell cultures.

Abstract:

:A 28-year-old man with negative family history for neuromuscular diseases showed a distal myopathy. Creatine kinase was slightly increased. Two muscle biopsies were performed. The first showed myopathic features, rimmed vacuoles in a limited area and increase of free glycogen; the second showed only nonspecific pathological findings, demonstrating the patchy nature of vacuolar alterations. Biochemical investigation of the glycogenolytic and glycolytic pathways in muscle homogenates ruled out enzyme deficiencies. Muscle cell cultures developed normally.

journal_name

Eur Neurol

journal_title

European neurology

authors

Mongini T,Doriguzzi C,Palmucci L,Pollo B,Arnaudo E,Bresolin N

doi

10.1159/000116430

subject

Has Abstract

pub_date

1989-01-01 00:00:00

pages

287-90

issue

5

eissn

0014-3022

issn

1421-9913

journal_volume

29

pub_type

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