title: Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.
abstract: Desminopathy represents a subgroup of myofibrillar myopathies caused by mutations in the desmin gene. Three novel disease-associated mutations in the desmin gene were identified in unrelated Spanish families affected by cardioskeletal myopathy. A selective pattern of muscle involvement, which differed from that observed in myofibrillar myopathy resulting from mutations in the myotilin gene, was observed in each of the three families with novel mutations and each of three desminopathy patients with known desmin mutations. Prominent joint retractions at the ankles and characteristic nasal speech were observed early in the course of illness. These findings suggest that muscle imaging in combination with routine clinical and pathological examination may be helpful in distinguishing desminopathy from other forms of myofibrillar myopathy and ordering appropriate molecular investigations.
authors.affiliation: Institut de Neuropatologia, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain. 25169mop@comb.es
authors.forename: Montse
authors.initials: M
authors.lastname: Olivé
authors.forename: Judith
authors.initials: J
authors.lastname: Armstrong
authors.forename: Francesc
authors.initials: F
authors.lastname: Miralles
authors.forename: Adolf
authors.initials: A
authors.lastname: Pou
authors.forename: Michel
authors.initials: M
authors.lastname: Fardeau
authors.forename: Laura
authors.initials: L
authors.lastname: Gonzalez
authors.forename: Francesca
authors.initials: F
authors.lastname: Martínez
authors.forename: Dirk
authors.initials: D
authors.lastname: Fischer
authors.forename: Juan Antonio
authors.initials: JA
authors.lastname: Martínez Matos
authors.forename: Alexey
authors.initials: A
authors.lastname: Shatunov
authors.forename: Lev
authors.initials: L
authors.lastname: Goldfarb
authors.forename: Isidre
authors.initials: I
authors.lastname: Ferrer
mesh_terms: D000328:Adult; D000843:Ankle Joint / Q000473:pathology; D001706:Biopsy; D003893:Desmin / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000378:metabolism / Q000473:pathology; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D009210:Myofibrils / Q000378:metabolism / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype; D013030:Spain; D013060:Speech; D014057:Tomography, X-Ray Computed
chemical_list: D003893:Desmin