title: Asymptomatic familial hyperCKemia associated with desmin accumulation in skeletal muscle.
abstract: We describe a family, two brothers and their mother, who came to our observation because of slight to moderate hyperCKemia. The younger brother, who had the highest CK values, was only suffering from episodic myalgia, the other two members of the family were asymptomatic. Neurological examination was normal. Both brothers underwent muscle biopsy which was significant for the presence of abnormal sarcoplasmic areas of desmin accumulation. So far, desmin abnormalities have never been reported in patients with such a mild neuromuscular pattern. We discuss possible correlations between severity of clinical phenotype and degree of desmin accumulation.
authors.affiliation: Istituto di Clinica Neurologica, Università di Milano, Centro Dino Ferrari, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Prelle
authors.forename: C
authors.initials: C
authors.lastname: Rigoletto
authors.forename: M
authors.initials: M
authors.lastname: Moggio
authors.forename: M
authors.initials: M
authors.lastname: Sciacco
authors.forename: G P
authors.initials: GP
authors.lastname: Comi
authors.forename: P
authors.initials: P
authors.lastname: Ciscato
authors.forename: G
authors.initials: G
authors.lastname: Fagiolari
authors.forename: S
authors.initials: S
authors.lastname: Rapuzzi
authors.forename: V
authors.initials: V
authors.lastname: Bignotti
authors.forename: G
authors.initials: G
authors.lastname: Scarlato
mesh_terms: D000328:Adult; D000368:Aged; D003402:Creatine Kinase / Q000097:blood*; D003893:Desmin / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology
chemical_list: D003893:Desmin; D003402:Creatine Kinase