title: Late onset scleroatonic familial myopathy (Ullrich disease): a study of two sibs.
abstract: We report on sibs with scleroatonic familial myopathy (Ullrich disease). Muscular weakness was of relatively late onset in relation to other cases reported in the literature. Short stature and moderate growth hormone deficiency were noted during follow-up. Differential diagnosis with other neuromuscular disorders, particularly rigid spine syndrome, is discussed.
authors.affiliation: Neurological Institute, Catholic University, UILDM, sez Laziale-Rome, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Ricci
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: R
authors.initials: R
authors.lastname: Boldrini
authors.forename: M
authors.initials: M
authors.lastname: Sabatelli
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: M R
authors.initials: MR
authors.lastname: Mazziotta
authors.forename: C
authors.initials: C
authors.lastname: Bosman
authors.forename: P
authors.initials: P
authors.lastname: Tonali
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D009132:Muscles / Q000473:pathology*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D012598:Sclerosis; D013116:Spinal Cord / Q000473:pathology