Results 141 to 150 of about 7,553,951 (168)

Predisposition to Subdural Hemorrhage in X-Linked Myotubular Myopathy

Pediatric Neurology, 2012
X-linked myotubular myopathy is a severe congenital myopathy that can involve multiple organs. We report on a 10-month-old boy who manifested X-linked myotubular myopathy with subdural hemorrhage. The diagnosis of X-linked myotubular myopathy was based on typical muscle pathology and MTM1 missense mutation.
Hiroshi, Koga, Kenichi, Miyako, Naohiro, Suga, Tomoko, Hidaka, Noboru, Takahashi   +4 more
openaire   +2 more sources

Gene expression analyses in X-linked myotubular myopathy

Neurology, 2005
X-linked myotubular myopathy (XLMTM) is a severe congenital disorder characterized by marked muscle weakness and hypotonia. Myotubularin, the protein product of the causative gene, MTM1, is thought to be a phosphatase for phosphatidylinositol-3-phosphate and may be involved in membrane trafficking.
S, Noguchi, M, Fujita, K, Murayama, R, Kurokawa, I, Nishino   +4 more
openaire   +2 more sources

A double mutation in a patient with X-linked myotubular myopathy

Pediatric Neurology, 2001
In this report a double mutation was identified in a patient with X-linked myotubular myopathy. The mutations present in the patient were a C-->T substitution of nucleotide 163, which led to an Arg 55 stop codon (nonsense mutation), and an "A" insertion at nucleotide 440, which caused a shift of the reading frame and a premature stop at codon 153 ...
N, Tachi, N, Kozuka, S, Chiba, M, Miyaji, I, Watanabe   +4 more
openaire   +2 more sources

X‐linked myotubular myopathy with fatal neonatal asphyxia

Neurology, 1975
A second family with X-linked myotubular myopathy is described. The clinical picture includes decreased fetal movements; hydramnios, in at least three cases, probably resulting from insufficient swallowing in utero; and asphyxia at birth. In three autopsy cases many myotubes were found in the muscle tissue.
P G, Barth, G K, Van Wijngaarden, J, Bethlem   +2 more
openaire   +2 more sources

Gene Therapy for X-Linked Myotubular Myopathy

2019
X-linked myotubular myopathy (XLMTM) emerges from mutations in the MTM1 gene and affects around 1 in 50,000 live-born male infants. This congenital myopathy has currently no treatment and leads to a severe impairment of motor skills and ventilation and premature death. In this chapter, we synthetize the results of gene therapy studies using recombinant
Jean-Baptiste Dupont, Michael W. Lawlor, Martin K. Childers   +2 more
openaire   +1 more source

X-linked myotubular myopathy: Refinement of the critical gene region

Neuromuscular Disorders, 1996
X-linked recessive myotubular myopathy (XLMTM) is a severe neonatal neuro-muscular disease characterized by muscle weakness, hypotonia, and respiratory problems. The locus for the XLMTM gene (MTM1) has previously been mapped to Xq28 between the markers DXS304 and DXS497 by linkage analyses and by determining the breakpoints of deletion patients.
Smolenicka Z, Laporte J, Hu L, Dahl N, Fitzpatrick J, Kress W, Liechti-Gallati S   +6 more
openaire   +3 more sources

X‐linked myotubular myopathy: clinical and pathological findings in a family

Clinical Genetics, 1989
A five‐generation family with recessively inherited X‐linked myotubular myopathy was investigated. Two of the affected boys, who were siblings and were verified by muscle biopsy to have the disease, died 3 days and 3 months, respectively, after birth. They showed marked hypotonus from birth, general muscle weakness and asphyxia.
A, Oldfors, M, Kyllerman, J, Wahlström, C, Darnfors, K G, Henriksson   +4 more
openaire   +2 more sources

Morphologic and morphometric analysis of muscle in X-linked myotubular myopathy

Human Pathology, 1986
The X-linked form of myotubular myopathy is highly lethal in neonates. Several autopsy-derived muscles from two probands of a new kindred who survived for 100 days because of intensive supportive care were analyzed by light microscopy, morphometry, enzyme histochemistry, and electron microscopy.
M M, Silver, J J, Gilbert, S, Stewart, D, Brabyn, J, Jung   +4 more
openaire   +2 more sources

X-Linked Myotubular Myopathy and Chylothorax

2018
Myotubular myopathy, also known as centronuclear myopathy, is acongenital muscle disease. There are three main types according to itsinheritance, which differ in clinical severity, age of onset, and prognosis.The most common and most severe type is X- linked myotubular myopathy.
DURANKUŞ, Ferit, AYVAZ, Adnan, BOZDAĞ, Şenol, ABDULLAH GÖL, Canan, ŞENKAL, Evrim   +4 more
openaire   +1 more source

[A case of X-linked myotubular myopathy with chylothorax].

No to hattatsu = Brain and development, 2016
We report a case of X-linked myotubular myopathy with chylothorax. A male infant weighing 2,114 g was born to a mother whose pregnancy was complicated with polyhydramnios from gestational week 32. At gestational week 37, emergent caesarian section was performed due to membrane rupture followed by fetal bradycardia.
Taku, Oishi, Tetsuya, Sato, Kenshi, Matsushita, Tomoki, Takechi, Nobuyuki, Murakami, Mikiya, Fujieda   +5 more
openaire   +1 more source