A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array.
Neuropediatrics
; 50(1): 61-63, 2019 02.
Article
en En
| MEDLINE
| ID: mdl-30541163
ABSTRACT
X-linked myotubular myopathy (XLMTM) is a rare inherited neuromuscular disorder associated with mutations in the MTM1 gene on the Xq28 region. We report a severely affected girl with XLMTM, caused by maternally inherited 661 kb Xq28 microduplication identified by chromosomal microarray analysis and confirmed also on DNA from muscle biopsy with a custom-designed X-chromosome-specific microarray. X-inactivation analysis revealed a skewed inactivation pattern on the proband's muscle biopsy. Muscle biopsy histopathology was indicative of increased variability in fiber diameter, marked and diffuse endomysial proliferation of adipose and connective tissues, as well as predominance of type 1 fibers.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Miopatías Estructurales Congénitas
/
Cromosomas Humanos X
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Duplicación Cromosómica
Tipo de estudio:
Prognostic_studies
Límite:
Child
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Female
/
Humans
Idioma:
En
Revista:
Neuropediatrics
Año:
2019
Tipo del documento:
Article
País de afiliación:
Grecia