关键词: Hereditary MTM1 gene Spastic paraplegia Whole exome sequencing X-linked myotubular myopathies
Mesh : Adult Aged Diagnosis, Differential Female Genetic Testing Heterozygote Humans Mutation, Missense Myopathies, Structural, Congenital / diagnosis genetics Pedigree Phenotype Protein Tyrosine Phosphatases, Non-Receptor / genetics Spastic Paraplegia, Hereditary / diagnosis genetics
来 源:
DOI:10.1016/j.ejmg.2020.104040
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