title: Skeletal muscle in children with congenital myotonic dystrophy in the first year of life.
abstract: Muscle biopsies of 9 children with congenital myotonic dystrophy were taken during the first year of life. All but one biopsy were abnormal showing nonspecific changes like an increased variability of fiber size, a selective atrophy of type I or type II fibers or an increased number of intrafusal muscle fibers. Nevertheless correct diagnosis of the disease based on morphological data only is impossible in some cases. A maturational arrest of the muscle is not a obligate feature of the disease. We conclude that muscle biopsy should be postponed after the first year of life.
authors.affiliation: Friedrich-Baur-Institut, Department of Neurology and Internal Medicine, University of Munich, Germany.
authors.forename: W
authors.initials: W
authors.lastname: Müller-Felber
authors.forename: M
authors.initials: M
authors.lastname: Schmidt-Achert
authors.forename: D E
authors.initials: DE
authors.lastname: Pongratz
mesh_terms: D001706:Biopsy; D006801:Humans; D007223:Infant; D009132:Muscles / Q000473:pathology*; D009223:Myotonic Dystrophy / Q000151:congenital / Q000473:pathology*