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An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus.
TLDR
A molecular mechanism to explain the clinical difference in severity between DMD and BMD patients who bear partial deletions of the same gene locus is presented and is applicable to potential 5' and 3' intron splice mutations and their effect on protein production and clinical phenotype. Expand
Protease-antiprotease imbalance in the lungs of children with cystic fibrosis.
TLDR
It is demonstrated that a chronic imbalance of the NE-anti-NE protective screen develops early on the respiratory epithelial surface in persons with CF and is likely well established by 1 yr of age, with resultant potential for lung damage. Expand
MTM1 mutations in X‐linked myotubular myopathy
TLDR
X‐linked myotubular myopathy is a severe congenital muscle disorder caused by mutations in the MTM1 gene, defining a large gene family highly conserved through evolution (which includes the putative anti‐phosphatase Sbf1/hMTMR5). Expand
Association of two silent polymorphisms of platelet glycoprotein la/lla receptor with risk of myocardial infarction: a case-control study
TLDR
The 807T/873A homozygosity of the platelet glycoprotein Ia/IIa gene polymorphism, associated with differences in surface collagen receptor density and activity, appears to be an independent risk factor for acute myocardial infarction. Expand
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR
TLDR
Using a strategy based on screening with long PCR, long PCR was able to detect and characterize high as well as low levels of mtDNA rearrangements in three patients, including two patients with clinical signs suggesting Pearson syndrome and Kearns-Sayre syndrome. Expand
Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.
TLDR
More than half of XLMTM mutations are expected to inactivate the putative enzymatic activity of myotubularin, either by truncation or by missense mutations affecting the predicted PTP domain, thus indicating the presence of other functional domains. Expand
Clonal analysis of human tumors with M27 beta, a highly informative polymorphic X chromosomal probe.
TLDR
Comparison of blood leukocytes and normal tissue indicated that in a given individual, X inactivation patterns may be tissue specific, and M27 beta may, therefore, be of limited use for the clonal analysis of neoplasms derived from hematopoietic cells. Expand
Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease
TLDR
The protocol presented represents a general model for point mutation analysis in other genetic disorders and has already been successfully established for OTC deficiency, collagene deficiency, X-linked myotubular myopathy, Duchenne and Becker muscular dystrophy, Neurofibromatosis I and II, Charcot-Marie-Tooth disease, hereditary neuropathy with liability to pressure palsies, and defects in mitochondrial DNA. Expand
Clonality and X-inactivation patterns in hematopoietic cell populations detected by the highly informative M27 beta DNA probe.
TLDR
It is concluded that in a population of cells derived from the hematopoietic system where clonality is uncertain, skewed M27 beta patterns are not reliable indicators for the presence of a clonal neoplastic disorder. Expand
Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother
TLDR
An extremely skewed X-inactivation pattern is found in the patient and, in the opposite direction, in her non-manifesting carrier mother, thus explaining her normal phenotype and indicating a possible inheritance of skewedX-in activation. Expand
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