X-linked myotubular myopathy with probable germline mosaicism

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 carri...

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Bibliographic Details
Published inClinical neuropathology Vol. 21; no. 6; p. 265
Main Authors Menon, K, Rao, T V, Bhat, B A, El Amin, E O
Format Journal Article
LanguageEnglish
Published Germany 01.11.2002
Subjects
Adenosine Triphosphate - metabolism
Adult
Biopsy
Desmin - metabolism
Female
Genetic Diseases, X-Linked - ultrastructure
Germ-Line Mutation
Humans
Infant, Newborn
Male
Mosaicism
Muscle, Skeletal - metabolism
Muscle, Skeletal - ultrastructure
Mutation
Myopathies, Structural, Congenital - genetics
Myopathies, Structural, Congenital - pathology
NAD - metabolism
Protein Tyrosine Phosphatases - genetics
Protein Tyrosine Phosphatases, Non-Receptor
Vimentin - metabolism
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Summary: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.
ISSN:0722-5091