title: X-linked myotubular myopathy with probable germline mosaicism.
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.
authors.affiliation: Department of Pediatrics, Khoula Hospital, Al Khod, Muscat, Sultanate of Oman.
authors.forename: K
authors.initials: K
authors.lastname: Menon
authors.forename: T V
authors.initials: TV
authors.lastname: Rao
authors.forename: B A
authors.initials: BA
authors.lastname: Bhat
authors.forename: E O
authors.initials: EO
authors.lastname: El Amin
mesh_terms: D000255:Adenosine Triphosphate / Q000378:metabolism; D000328:Adult; D001706:Biopsy; D003893:Desmin / Q000378:metabolism; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000648:ultrastructure*; D018095:Germ-Line Mutation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D018482:Muscle, Skeletal / Q000378:metabolism / Q000648:ultrastructure; D009154:Mutation; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology*; D009243:NAD / Q000378:metabolism; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D014746:Vimentin / Q000378:metabolism
chemical_list: D003893:Desmin; D014746:Vimentin; D009243:NAD; D000255:Adenosine Triphosphate; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin