Intranuclear nemaline rod myopathy.
The clinical, pathologic, and genetic findings of a boy with intranuclear nemaline rod myopathy are described. Serial muscle biopsies revealed myocyte nuclei containing inclusions that were immunoreactive for alpha-actinin and increased with age. Genetic analysis revealed a Val163Leu ACTA1 mutation previously associated with nemaline rod myopathy. Although initially delayed, he has reached all milestones and remains stable. These findings suggest intranuclear rods may increase with time and do not necessarily imply a poor prognosis.
Kaimaktchiev
Vassil
V
Department of Pathology, Oregon Health & Sciences University, 3181 SW Sam Jackson Park Road, Portland, Oregon 97239, USA.
Goebel
Hans
H
Laing
Nigel
N
Narus
Michael
M
Weeks
Douglas
D
Nixon
Randal
R
D001706:Biopsy; D002467:Cell Nucleus / Q000473:pathology; D002648:Child; D006801:Humans; D045586:Intranuclear Inclusion Bodies / Q000473:pathology*; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology*; D017696:Myopathies, Nemaline / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*