title: X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child.
abstract: We report a male, preterm newborn infant with X-linked myotubular myopathy, the most severe type of the disease. He presented at birth with generalized hypotonia, difficulty in swallowing, and respiratory distress with frequent episodes of atelectasis. The infant had a long thin face, generalized hypotonia, and arachnodactyly. Diagnosis was based on fetal history, muscle histopathology, electron microscopy and a genetic study. A base pair change was detected in exon 11 of the MTM1 gene: c.1160C>A, which caused an amino acid change, p.S387Y. The father's gene was normal but the mother had the same mutation as her son and was thus a carrier.
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chia-Ying
authors.initials: CY
authors.lastname: Chang
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.forename: Chih-Kuang
authors.initials: CK
authors.lastname: Chuang
authors.forename: Che-Sheng
authors.initials: CS
authors.lastname: Ho
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Su
mesh_terms: D001706:Biopsy; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D050172:Genes, X-Linked; D040181:Genetic Diseases, X-Linked; D020022:Genetic Predisposition to Disease; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D018485:Muscle Fibers, Skeletal / Q000648:ultrastructure; D009154:Mutation; D009224:Myotonia Congenita / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics*; D013902:Radiography, Thoracic
chemical_list: D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin