Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene.

Abstract excerpt

X-linked recessive myotubular myopathy (XLMTM; MTM1) is a severe neonatal disorder often causing perinatal death of the affected males. The responsible gene, designated MTM1, was localized to proximal Xq28 and recently isolated. The characterization of MTM1 allowed us to screen for causing mutations in three families, previously investigated by linkage analysis. Using exon amplification, single strand...

Topics

• DNA Mutational Analysis
• Exons
• Female
• Fetal Diseases
• Gene Amplification
• Genes, Recessive
• Genetic Linkage
• Genetic Testing
• Humans
• Male
• Muscle Hypotonia
• Muscle Weakness
• Mutation
• Pregnancy
• Prenatal Diagnosis