| Literature DB >> 1231675 |
M Fardeau, J P Harpey, B Caille, J Lafourcade.
Abstract
Two sisters presenting with benign congenital hypotonia are reported. In both cases the muscle biopsies demonstrated the same pathological pattern, consisting in an abnormal size disproportion between the two main cytoenzymological types of muscle fibers. Their father, exhibiting a slight and diffuse muscle weakness, showed a closely related histological aspect. These three cases bring the first evidence of a familial transmission of this new entity. Its relationship with the other types of "congenital myopathies" is discussed.Entities:
Mesh:
Year: 1975 PMID: 1231675
Source DB: PubMed Journal: Arch Fr Pediatr ISSN: 0003-9764