1/21. X-linked myotubular myopathy with probable germline mosaicism.X-linked myotubular myopathy is a disorder characterized by severe neonatal hypotonia and respiratory insufficiency. The mutation of MTMI gene results in a defective production of myotubularin, which is responsible for the maturational arrest of muscle development. An identical mutation in the carrier mother and the diseased child establishes the inheritance. We report the disease in a neonate with a mutation on exon 6 of the MTMI gene. Surprisingly, the mother was healthy and did not carry this mutation, she is likely to have germline mosaicism.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
2/21. A novel mutation in the G4.5 (TAZ) gene in a kindred with barth syndrome.barth syndrome is an X-linked recessive disorder characterised by dilated cardiomyopathy and a variable expression of skeletal myopathy, short statue and neutropenia. Molecular genetic analysis is currently the most reliable diagnostic method. A kindred with a novel 535delC mutation in the G4.5 (TAZ) gene responsible for barth syndrome is presented. Beside the patient, the same mutation was detected in patient's mother and grandmother. In contrast to the so far reported patients with mutations in the same region of G4.5 (TAZ) gene, the patient described here has only a mild and transitory clinical presentation. This could be attributed to alternative splicing of G4.5 (TAZ) gene, since mRNA lacking exon 6 (with 535delC mutation) was detected. Genetic analysis of the G4.5 (TAZ) gene was helpful for establishing the precise diagnosis of barth syndrome and for adequate genetic counselling. Predicting the phenotype on the basis of mutations is unreliable especially if mutations are localised in alternatively spliced exons of the G4.5 (TAZ) gene which may result in a milder clinical presentation than expected.- - - - - - - - - - ranking = 0.4keywords = myopathy (Clic here for more details about this article) |
3/21. X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation.X-linked myotubular myopathy usually affects male infants with a severe phenotype leading to early death or survival with severe handicaps. female carriers have been reported manifesting in childhood with slowly progressive muscle weakness only. The authors describe a now 5-year-old girl with prenatal/neonatal onset of an X-linked myotubular myopathy due to a 605delT mutation in the myotubularin gene.- - - - - - - - - - ranking = 1.2keywords = myopathy (Clic here for more details about this article) |
4/21. X-linked myotubular myopathy in a family with three adult survivors.We describe a family with an extremely mild form of X-linked myotubular myopathy. Three affected males survived to adulthood with sufficient muscle strength to enable them to carry out normal daily activities. The mildness of the myopathy in this family is highlighted by the following: no neonatal or infant mortality resulting from the myopathy; one affected male who did not have neonatal asphyxia and had normal early motor milestones - this affected male was able to increase his muscle bulk and strength to normal by weightlifting; and a 55-year-old male who still lives an independent life. dna sequencing identified a novel missense mutation - G469A (E157K) - in exon 7 of the MTM1 gene in this family. To our knowledge, this is the third X-linked myotubular myopathy family, with multiple adult survivors, to be reported in the literature.- - - - - - - - - - ranking = 1.6keywords = myopathy (Clic here for more details about this article) |
5/21. X-linked centronuclear myopathy.We report the cases of two male preterm newborns with X-linked centronuclear myopathy (CNM). This is the most severe type of CNM. Each of them presented with generalized hypotonia, weakness, difficulty in swallowing, and respiratory distress at birth. physical examination of both newborns revealed long thin face, high-arched palate, mild bilateral ptosis, frog-leg posture, and absence of deep tendon reflex. diagnosis of the disease was made according to fetal history, family history, muscle histopathology, electron microscopy, and genetic analysis. Subdural hemorrhage of brain and subcapsular hematoma of the liver were found at autopsy of Case 1. The results of molecular analysis of Case 2 and his family favored the diagnosis of X-linked CNM. Molecular studies can be easily performed with only minute amount of dna of patients, and may help the clinician to predict which patients may be at the risk for medical complications.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
6/21. McLeod syndrome resulting from a novel XK mutation.McLeod Syndrome (MLS) is a rare X-linked disorder characterized by haemopoietic abnormalities and late-onset neurological and muscular defects. The McLeod blood group phenotype is typically associated with erythrocyte acanthocytosis, absence of the Kx antigen and reduced expression of Kell system antigens. MLS is caused by hemizygosity for mutations in the XK gene. We describe a patient with MLS who first showed symptoms in 1989 (aged 51 years). As the disease progressed, the patient developed a slight dementia, aggressive behaviour and choreatic movements. A cardiomyopathy was also diagnosed. An electroneuromyography showed neuropathic and myopathic changes. liver enzymes were elevated and a blood smear showed acanthocytes. MLS was confirmed by serological analysis of the Kell antigens. Analysis of red blood cells by flow cytometry revealed the patient and his grandson to have reduced Kell antigen expression. The patient's daughters had two populations of red cells, consistent with them being heterozygous for an XK0 allele. The molecular basis of MLS in this family is a novel mutation consisting of a 7453-bp deletion that includes exon 2 of the XK gene. This confirms that the patient's 7-year-old grandson, who is currently asymptomatic, also has the XK0 allele and is therefore likely to develop MLS.- - - - - - - - - - ranking = 0.2keywords = myopathy (Clic here for more details about this article) |
7/21. cataract extraction in X-linked megalocornea: a case report.OBJECTIVE: A case is described of a patient with X-linked megalocornea (XLM) who underwent bilateral consecutive phacoemulsification with posterior chamber intraocular lens (PC IOL) implantation. methods: A 49-year-old man referred to us for cataract extraction was found to have XLM with mosaic corneal dystrophy. Pseudoexfoliation of the lens capsule was present in the right eye. phacoemulsification was planned, and the Holladay II formula was used to calculate the IOL power. RESULTS: During phacoemulsification, anomalies of the capsule and zonule were observed bilaterally. At the last examination (follow-up 28 months OS, 13 months OD), best spectacle-corrected vision was 20/20 in both eyes, but the IOL was slightly decentered in the right eye. CONCLUSIONS: Corneal enlargement and mosaic dystrophy are obvious features of XLM. Anomalies involving the anterior structures of the eye and in particular the lens capsule and zonule are also frequent. cataract extraction with phacoemulsification and PC IOL implantation can be successful, but special attention must be paid to both surgical technique and IOL selection.- - - - - - - - - - ranking = 0.048084704681934keywords = dystrophy, ocular (Clic here for more details about this article) |
8/21. General anesthesia in an infant with X-linked myotubular myopathy.We present a 20-week-old infant with the X-linked form of myotubular myopathy who required anesthesia for a Nissen fundoplication procedure where the response to nondepolarizing neuromuscular blockade was evaluated.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
9/21. A novel missense Norrie disease mutation associated with a severe ocular phenotype.Clinical findings and pedigree analysis led to the diagnosis of severe Norrie disease in two brothers. dna sequencing demonstrated a novel missense mutation (703G>T) that significantly alters predicted protein structure. Less severe retinal developmental disease may be associated with milder mutations in the Norrie disease gene.- - - - - - - - - - ranking = 0.01796157975038keywords = ocular (Clic here for more details about this article) |
10/21. Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita.Complex glycerol kinase deficiency (GKD) results from the contiguous deletion on Xp21 of all or part of the gene for glycerol kinase together with that for adrenal hypoplasia congenita (AHC) and /or Duchenne muscular dystrophy (DMD). The authors present the case of a newborn whose initial issues were refractory hypoglycaemia along with hyponatremia and hyperkalemia. He also had low serum cortisol levels and raised urinary excretion of glycerol and required steroid supplementation. His creatinine phosphokinase (CPK) levels were normal. Molecular studies revealed a contiguous Xp21 deletion. Therapy in such cases must be prompt and includes correction of hypoglycaemia and dyselectrolytemia, a low fat diet and steroid replacement.- - - - - - - - - - ranking = 0.44312529859871keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
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