Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.
Mutations in the lamin A/C gene (LMNA) have been associated with neuromuscular diseases and more complex syndromes, involving bone and adipose tissue. We report on a case of early onset myopathy due to a heterozygous LMNA mutation in exon 9, characterized by the presence of a marked number of cytoplasmic bodies with extensive myofibrillar abnormalities and Z-disk disruption in skeletal muscle. This case suggests there is a need to increase the list of genes to be screened in patients with myofibrillar myopathy.
D'Amico
A
A
Unit of Molecular Medicine and Pathology, Department of Laboratory Medicine, Bambino Gesu' Children's Research Hospital, Rome, Italy.
Benedetti
S
S
Petrini
S
S
Sambuughin
N
N
Boldrini
R
R
Menditto
I
I
Ferrari
M
M
Verardo
M
M
Goldfarb
L
L
Bertini
E
E
D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D003893:Desmin / Q000378:metabolism; D003576:Electron Transport Complex IV / Q000378:metabolism; D005091:Exons; D005260:Female; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D034904:Lamin Type A / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism; D020125:Mutation, Missense / Q000235:genetics*; D009210:Myofibrils / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure
D003893:Desmin; C494847:LMNA protein, human; D034904:Lamin Type A; D003576:Electron Transport Complex IV