Intranuclear nemaline rod myopathy.

Abstract:

: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.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Kaimaktchiev V,Goebel H,Laing N,Narus M,Weeks D,Nixon R

doi

10.1002/mus.20521

subject

Has Abstract

pub_date

2006-09-01 00:00:00

pages

369-72

issue

3

eissn

0148-639X

issn

1097-4598

journal_volume

34

pub_type

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