Myofibrillar Myopathy: A Case Report
Korean Journal of Pathology
;
: 426-430, 2010.
Article
in English
| WPRIM
| ID: wpr-155458
ABSTRACT
Myofibrillar myopathies (MFMs) are a genetically or clinically heterogeneous group of diseases that are characterized by focal myofibrillar dissolution associated with accumulation of myofibrillar degradation products and ectopic expression of multiple proteins. Since MFMs show morphologically distinct features but consist of genetically and clinically heterogeneous diseases, muscle biopsy is important for the diagnosis. A 20-year-old man complained of progressive weakness and atrophy of both legs for two years. He had a dysmorphic face and short stature. The light microscopic examination of his muscle biopsy showed mixed myopathic and neurogenic changes. Many myofibers with multiple clusters of blue red rod-like structures and cytoplasmic inclusions were noted. Immunohistochemistry showed a focal positive reaction in sarcoplasm to desmin and myotilin antibodies. An electron microscope study revealed variable abnormalities of myofibrillar structures. To the best of our knowledge, this is the first reported case of MFM with pathology findings in Korea.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Atrophy
/
Biopsy
/
Immunohistochemistry
/
Proteins
/
Inclusion Bodies
/
Desmin
/
Electrons
/
Korea
/
Leg
/
Light
Limits:
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Korean Journal of Pathology
Year:
2010
Type:
Article
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