title: Centronuclear myopathy heterogeneity: distinction of clinical types by myosin isoform patterns.
abstract: We studied muscles from 3 patients with centronuclear myopathy (CNM) by immunocytochemistry using myosin heavy chain (MHC)-specific monoclonal antibodies to determine whether subtypes of CNM express prenatal MHC and to assess if there is an arrest in development of these muscles. Muscle from a woman with childhood-onset CNM did not express prenatal MHC, yet this prenatal MHC was strongly expressed in the muscle fibers of 2 brothers with X-linked CNM. This finding represents the 1st immunocytochemical evidence of the expression of a prenatal myosin isoform in nonregenerating postnatal human muscle and suggests that the X-linked form of CNM differs from the other types because of a true arrest in maturation of the muscle.
authors.affiliation: Department of Neurology, SUNY Health Science Center, Brooklyn 11203.
authors.forename: J A
authors.initials: JA
authors.lastname: Sawchak
authors.forename: J H
authors.initials: JH
authors.lastname: Sher
authors.forename: M G
authors.initials: MG
authors.lastname: Norman
authors.forename: R W
authors.initials: RW
authors.lastname: Kula
authors.forename: S A
authors.initials: SA
authors.lastname: Shafiq
mesh_terms: D000328:Adult; D000911:Antibodies, Monoclonal; D001706:Biopsy; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006651:Histocytochemistry; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000145:classification / Q000201:enzymology / Q000235:genetics / Q000473:pathology*; D009218:Myosins / Q000737:chemistry*; D014960:X Chromosome
chemical_list: D000911:Antibodies, Monoclonal; D009218:Myosins