Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genes.
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.
Kostera-Pruszczyk
Anna
A
Medical University of Warsaw, Department of Neurology, Banacha 1a, 02-097, Warsaw, Poland. akostera@amwaw.edu.pl
Goudeau
Bertrand
B
Ferreiro
Ana
A
Richard
Pascal
P
Simon
Stéphanie
S
Vicart
Patrick
P
Fidzianska
Anna
A
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
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