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FAMILIAL MYOPATHY ASSOCIATED WITH MARFANOID FEATURES AND MULTICORES
Author(s) -
JOYCE D. A.,
MASTAGLIA F. L.,
OJEDA V. J.,
SPAGNOLO D. V.
Publication year - 1984
Publication title -
australian and new zealand journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0004-8291
DOI - 10.1111/j.1445-5994.1984.tb03626.x
Subject(s) - medicine , myopathy , atrophy , pathology
The cases of a mother and son with a slowly progressive generalised myopathy and Marfanoid features are described. Muscle biopsies showed atrophy, type 1 fibre preponderance, excessive variation in fibre size and shape, and multiple foci of myofibrillar disorganisation with loss of oxidative enzyme activity of the type found in multicore disease.