Intranuclear nemaline rod myopathy

6533b85afe1ef96bd12b8bcf

RESEARCH PRODUCT

Intranuclear nemaline rod myopathy

Nigel G. Laing Hans H. Goebel Douglas A. Weeks Vassil Kaimaktchiev Randal R. Nixon Michael Narus

subject

Male Poor prognosis Pathology medicine.medical_specialty Physiology Biopsy Intranuclear Inclusion Bodies Myopathies Nemaline medicine.disease_cause Cellular and Molecular Neuroscience Nemaline myopathy Physiology (medical)Biopsy medicine Humans Myocyte Intranuclear Nemaline Rod Myopathy Child Muscle Skeletal Myopathy Actin Cell Nucleus Mutation medicine.diagnostic_test business.industry medicine.disease Neurology (clinical)medicine.symptom business

description

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 α-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. Muscle Nerve, 2006

year	journal	country	edition	language
2006-02-16	Muscle & Nerve

https://doi.org/10.1002/mus.20521

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