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X‐Linked myopathy with excessive autophagy: A new hereditary muscle disease
Author(s) -
Kalimo Hannu,
Savontaus MarjaLiisa,
Lang Heikki,
Paljärvi Leo,
Sonninen Vesa,
Dean Peter B.,
Katevuo Kalevi,
Salminen Antero
Publication year - 1988
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410230308
Subject(s) - myopathy , autophagy , muscle biopsy , medicine , congenital myopathy , disease , pathology , biopsy , biology , genetics , apoptosis
We report on 3 brothers with a myopathy that also affected their maternal grandfather and great‐uncle. Characteristic features are onset in early childhood, very slow progression, normal life expectancy, weakness of proximal limb muscles, especially in the legs, elevation of serum creatine kinase, and no cardiac or intellectual involvement. In biopsy material muscle fibers are almost never necrotic but show excessive autophagic activity and exocytosis of the phagocytosed material. We suggest that this family has an undescribed type of congenital myopathy, for which we propose the name X‐linked myopathy with excessive autophagy.