Abstract | BACKGROUND: Congenital myopathies (CMs) are rare and they are clinically and genetically heterogeneous. Muscle biopsy is characterized by structural abnormality that is diagnostic. There are few studies from India. MATERIALS AND METHODS: RESULTS: CONCLUSION: CMs are rare and the diagnosis can only be established on muscle biopsy. Defining the specific CMs helps the clinician in counseling the patient and family.
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Authors | Megha S Uppin, A K Meena, Challa Sundaram |
Journal | Neurology India
(Neurol India)
2013 May-Jun
Vol. 61
Issue 3
Pg. 254-9
ISSN: 0028-3886 [Print] India |
PMID | 23860144
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adolescent
- Adult
- Biopsy
- Child
- Child, Preschool
- Female
- Humans
- Infant
- Infant, Newborn
- Male
- Muscle Fibers, Skeletal
(pathology)
- Myopathies, Nemaline
(pathology)
- Myopathies, Structural, Congenital
(classification, pathology)
- Myopathy, Central Core
(pathology)
- Quadriceps Muscle
(pathology)
- Retrospective Studies
- Young Adult
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