Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Item
http://www.wikidata.org/entity/Q35644299
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingSkeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species ComparisonsThe myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil.A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS LocusDeletion Xq27.3q28 in female patient with global developmental delays and skewed X-inactivation.Genetic linkage heterogeneity in myotubular myopathy.Heritability of X chromosome--inactivation phenotype in a large family.Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.Centronuclear (myotubular) myopathy.Microdeletions including FMR1 in three female patients with intellectual disability - further delineation of the phenotype and expression studies.A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy.
P2860

Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X inactivation assigns the MTM1 gene to a 600-kb region.

Item
http://www.wikidata.org/entity/Q35644299
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
1995年论文
@zh
1995年论文
@zh-cn
name
Myotubular myopathy in a girl ...... MTM1 gene to a 600-kb region.
@ast
Myotubular myopathy in a girl ...... MTM1 gene to a 600-kb region.
@en
type
label
Myotubular myopathy in a girl ...... MTM1 gene to a 600-kb region.
@ast
Myotubular myopathy in a girl ...... MTM1 gene to a 600-kb region.
@en
prefLabel
Myotubular myopathy in a girl ...... MTM1 gene to a 600-kb region.
@ast
Myotubular myopathy in a girl ...... MTM1 gene to a 600-kb region.
@en
P1433
P1476
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932
P1433
P1476
Myotubular myopathy in a girl ...... e MTM1 gene to a 600-kb region
@en
P2093
P2860
P304
P31
P407
P433
P478
P577
P698
P932