Abstract |
X-linked myotubular myopathy is a disorder characterized by severe neonatal hypotonia and respiratory insufficiency. The mutation of MTMI gene results in a defective production of myotubularin, which is responsible for the maturational arrest of muscle development. An identical mutation in the carrier mother and the diseased child establishes the inheritance. We report the disease in a neonate with a mutation on exon 6 of the MTMI gene. Surprisingly, the mother was healthy and did not carry this mutation, she is likely to have germline mosaicism.
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Authors | K Menon, T V Rao, B A Bhat, E O El Amin |
Journal | Clinical neuropathology
(Clin Neuropathol)
Vol. 21
Issue 6
Pg. 265-8
( 2002)
ISSN: 0722-5091 [Print] Germany |
PMID | 12489675
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Desmin
- Vimentin
- NAD
- Adenosine Triphosphate
- Protein Tyrosine Phosphatases
- Protein Tyrosine Phosphatases, Non-Receptor
- myotubularin
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Topics |
- Adenosine Triphosphate
(metabolism)
- Adult
- Biopsy
- Desmin
(metabolism)
- Female
- Genetic Diseases, X-Linked
(ultrastructure)
- Germ-Line Mutation
- Humans
- Infant, Newborn
- Male
- Mosaicism
- Muscle, Skeletal
(metabolism, ultrastructure)
- Mutation
- Myopathies, Structural, Congenital
(genetics, pathology)
- NAD
(metabolism)
- Protein Tyrosine Phosphatases
(genetics)
- Protein Tyrosine Phosphatases, Non-Receptor
- Vimentin
(metabolism)
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