title: Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes.
abstract: Myofibrillar myopathies are genetically heterogeneous. We present a sporadic case of an 8-year-old boy with unusual combination of congenital skeletal muscle myopathy, cataract and poly/syndactyly. Muscle pathology revealed a mild myopathic picture with hyaline plaques, showing dark green staining in modified trichrome reaction, and strong immunoreactivity for alphaB-crystallin, desmin and dystrophin. Analysis of the coding sequences of the desmin, alphaB-crystallin, SEPN1, lamin A/C genes and of exon 2 of the myotilin gene showed no abnormalities in the patient. Presented case expands the wide clinical spectrum of myofibrillar myopathies, reinforcing the need for further exploration of genetic causes for this group of disorders.
authors.affiliation: Medical University of Warsaw, Department of Neurology, Banacha 1a, 02-097, Warsaw, Poland. akostera@amwaw.edu.pl
authors.forename: Anna
authors.initials: A
authors.lastname: Kostera-Pruszczyk
authors.forename: Bertrand
authors.initials: B
authors.lastname: Goudeau
authors.forename: Ana
authors.initials: A
authors.lastname: Ferreiro
authors.forename: Pascal
authors.initials: P
authors.lastname: Richard
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Simon
authors.forename: Patrick
authors.initials: P
authors.lastname: Vicart
authors.forename: Anna
authors.initials: A
authors.lastname: Fidzianska
mesh_terms: D002386:Cataract / Q000151:congenital* / Q000473:pathology; D002648:Child; D064211:Connectin; D003598:Cytoskeletal Proteins / Q000235:genetics; D003893:Desmin / Q000235:genetics; D006801:Humans; D034904:Lamin Type A / Q000235:genetics; D008297:Male; D008840:Microfilament Proteins; D009124:Muscle Proteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009210:Myofibrils / Q000473:pathology*; D020914:Myopathies, Structural, Congenital / Q000150:complications / Q000235:genetics* / Q000473:pathology*; D010641:Phenotype; D017689:Polydactyly / Q000235:genetics; D051140:Selenoproteins / Q000235:genetics; D013576:Syndactyly / Q000235:genetics; D038203:alpha-Crystallin B Chain / Q000235:genetics
chemical_list: C059215:CRYAB protein, human; D064211:Connectin; D003598:Cytoskeletal Proteins; D003893:Desmin; C494847:LMNA protein, human; D034904:Lamin Type A; C577290:MYOT protein, human; D008840:Microfilament Proteins; D009124:Muscle Proteins; C435489:SELENON protein, human; D051140:Selenoproteins; D038203:alpha-Crystallin B Chain