关键词: Abnormal genital development CGH array MTM1 gene Next-generation sequencing X-linked myotubular myopathy
Mesh : Adult Biopsy Blotting, Western Child Cohort Studies DNA Mutational Analysis / methods Female Heterozygote Humans Infant Infant, Newborn Leg / diagnostic imaging pathology Magnetic Resonance Imaging Male Middle Aged Muscle, Skeletal / diagnostic imaging pathology Muscular Diseases / genetics Mutation Protein Tyrosine Phosphatases, Non-Receptor / genetics Sex Characteristics
来 源:
DOI:10.1016/j.nmd.2016.02.004
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