Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.
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.
Olivé
Montse
M
Institut de Neuropatologia, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain. 25169mop@comb.es
Armstrong
Judith
J
Miralles
Francesc
F
Pou
Adolf
A
Fardeau
Michel
M
Gonzalez
Laura
L
Martínez
Francesca
F
Fischer
Dirk
D
Martínez Matos
Juan Antonio
JA
Shatunov
Alexey
A
Goldfarb
Lev
L
Ferrer
Isidre
I
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
D003893:Desmin