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Congenital fiber type disproportion in an adult: a morphometric and microchemical study
Author(s) -
Haltia M.,
Somer H.,
Rehunen S.
Publication year - 1988
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1988.tb03621.x
Subject(s) - hypotonia , fibre type , muscle biopsy , muscle hypotonia , weakness , fiber type , medicine , anatomy , biopsy , pathology , skeletal muscle
‐ A 20‐year‐old man with marfanoid habitus had a history of congenital hypotonia and muscle weakness. Muscle biopsy showed extreme fiber type disproportion. There was total absence of Type 2B fibers. The severely hypertrophic Type 2A fibers showed twice the normal concentration of creatine phosphate at rest. These advanced morphometric, histochemical and biochemical changes may be interpreted as compensatory phenomena, which may explain the patient's pronounced functional improvement with advancing age.