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排序方式: 共有157条查询结果,搜索用时 31 毫秒
81.
Lydia Sagath Vilma-Lotta Lehtokari Salla Välipakka Anna Vihola Maria Gardberg Peter Hackman Katarina Pelin Manu Jokela Kirsi Kiiski Bjarne Udd Carina Wallgren-Pettersson 《Neuromuscular disorders : NMD》2021,31(6):539-545
We report the first mosaic mutation, a deletion of exons 11–107, identified in the nebulin gene in a Finnish patient presenting with a predominantly distal congenital myopathy and asymmetric muscle weakness. The female patient is ambulant and currently 26 years old. Muscle biopsies showed myopathic features with type 1 fibre predominance, strikingly hypotrophic type 2 fibres and central nuclei, but no nemaline bodies. The deletion was detected in a copy number variation analysis based on next-generation sequencing data. The parents of the patient did not carry the deletion. Mosaicism was detected using a custom, targeted comparative genomic hybridisation array. Expression of the truncated allele, less than half the size of full-length nebulin, was confirmed by Western blotting. The clinical and histological picture resembled that of a family with a slightly smaller deletion, and that in patients with recessively inherited distal forms of nebulin-caused myopathy. Asymmetry, however, was a novel feature. 相似文献
82.
83.
High prevalence of Kennedy's disease in Western Finland - is the syndrome underdiagnosed? 总被引:1,自引:0,他引:1
B. Udd V. Juvonen L. Hakamies A. Nieminen C. Wallgren-Pettersson K. Cederquist M.-L. Savontaus 《Acta neurologica Scandinavica》1998,98(2):128-133
Objectives - To assess the prevalence of Kennedy's disease in the Vasa region of Western Finland. Patients and methods - Verification of diagnosis by molecular genetic techniques since 1995. Results - Within 2 years we have been able to identify a large number of families with this disorder. We have arrived at a point prevalence of Kennedy's disease in the district of Vasa Central Hospital of 13 patients per 85,000 male inhabitants. Assuming an even distribution throughout the country, this would suggest hundreds of patients with this disorder in Finland. Conclusion - Kennedy's disease is the most common motor neuron disorder in the Vasa region, exceeding the prevalence of ALS by a factor of two, and far more common than any of the other motor neuron disorders. The fact that none of our patients, despite previous examinations, had correct diagnoses before 1995, indicates that Kennedy's disease still might be relatively underdiagnosed. 相似文献
84.
Nivetha Ramachandran Iulia Munteanu Peixiang Wang Alessandra Ruggieri Jennifer J. Rilstone Nyrie Israelian Taline Naranian Paul Paroutis Ray Guo Zhi-Ping Ren Ichizo Nishino Brigitte Chabrol Jean-Francois Pellissier Carlo Minetti Bjarne Udd Michel Fardeau Chetankumar S. Tailor Don J. Mahuran John T. Kissel Hannu Kalimo Nicolas Levy Morris F. Manolson Cameron A. Ackerley Berge A. Minassian 《Acta neuropathologica》2013,125(3):439-457
X-linked Myopathy with Excessive Autophagy (XMEA) is a childhood onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. We show that XMEA is caused by hypomorphic alleles of the VMA21 gene, that VMA21 is the diverged human ortholog of the yeast Vma21p protein, and that like Vma21p, VMA21 is an essential assembly chaperone of the vacuolar ATPase (V-ATPase), the principal mammalian proton pump complex. Decreased VMA21 raises lysosomal pH which reduces lysosomal degradative ability and blocks autophagy. This reduces cellular free amino acids which leads to downregulation of the mTORC1 pathway, and consequent increased macroautophagy resulting in proliferation of large and ineffective autolysosomes that engulf sections of cytoplasm, merge, and vacuolate the cell. Our results uncover a novel mechanism of disease, namely macroautophagic overcompensation leading to cell vacuolation and tissue atrophy. 相似文献
85.
Marzia Pollazzon Tiina Suominen Sini Penttilä Alessandro Malandrini Maria Alessandra Carluccio Mauro Mondelli Annabella Marozza Antonio Federico Alessandra Renieri Peter Hackman Maria Teresa Dotti Bjarne Udd 《Journal of neurology》2010,257(4):575-579
Tibial muscular dystrophy (TMD) or Udd myopathy is an autosomal dominant distal myopathy with late onset, at first described in the Finnish population. We report here the first Italian cases of TTN mutated titinopathy. The proband, a 60 year-old female, had the first muscular signs at the age of 59 years, with difficulty in walking and right foot drop. Muscle imaging showed selective fatty degenerative change in the anterior compartment of leg muscles. Her 67 year-old brother, started to show muscle weakness, pain at lower limbs and hypertrophy of calf muscles at the age of 66 years. Their mother began to show foot drop and impaired walking from the age of 60 years. Other relatives are reported to be affected in a similar way. Because the phenotype appeared compatible with TMD, we analyzed the TTN gene in the DNA of the proband and we identified a heterozygous mutation 293326A>C. This mutation is also present in the brother and in the other affected individuals of the same family. The mutation predicts a His33378Pro change located next to the previously known Belgian TMD mutation. The mutation was not found in 100 Italian control DNA samples. Then, since the introduction of a proline in the last domain of titin was previously known to cause TMD in French families, we can conclude that this missense mutation is the obvious pathogenetic mutation in the affected patients. No other disease causing mutations in the TTN gene have so far been reported in the Italian population. 相似文献
86.
Mahjneh I Anttonen AK Somer M Paetau A Lehesjoki AE Somer H Udd B 《Journal of neurology》2006,253(3):301-306
Background
Marinesco–Sjögren syndrome (MSS) is an autosomal recessive multiorgan disorder showing clinical and genetic heterogeneity. The key features of MSS include cerebellar ataxia, early bilateral cataracts, delayed motor development, and varying degrees of mental retardation. Patients with a subtype of MSS with myoglobinuria and neuropathy have been linked to chromosome 18qter, and recently a locus for classical MSS has been localized on chromosome 5q31.Objectives
To determine the importance of myopathy in this disorder apart from the CNS based disability and to establish the pattern of muscle involvement and degree of its severity.Methods
Muscle computed tomography (CT) investigations were carried out in nine Finnish MSS patients homozygous for markers around the MSS locus on chromosome 5q31.Results
Patients with severe clinical disability showed severe and generalized muscle degeneration. Muscle CT findings in patients with relatively severe clinical picture were characterized by severe involvement of the posterior thoracic and pelvic muscles, and almost all thigh muscles. In the legs the peronei and posterior compartment muscles were severely degenerated. The group of patients with moderate severity of disease showed the same pattern of involved muscle, albeit with lower degree of muscle degeneration.Conclusions
Patients with MSS linked to chromosome 5q31 have a severe progressive myopathy, the extent of which may remain largely unrecognized because of the CNS involvement. 相似文献87.
88.
Bartoli M Gicquel E Barrault L Soheili T Malissen M Malissen B Vincent-Lacaze N Perez N Udd B Danos O Richard I 《Human molecular genetics》2008,17(9):1214-1221
Limb girdle muscular dystrophy type 2D (LGMD2D, OMIM600119) is a genetic progressive myopathy that is caused by mutations in the human alpha-sarcoglycan gene (SGCA). Here, we have introduced in mice the most prevalent LGMD2D mutation, R77C. It should be noted that the natural murine residue at this position is a histidine. The model is, therefore, referred as Sgca(H77C/H77C). Unexpectedly, we observed an absence of LGMD2D-like phenotype at histological or physiological level. Using a heterologous cellular model of the sarcoglycan complex formation, we showed that the R77C allele encodes a protein that fails to be delivered to its proper cellular localization in the plasma membrane, and consequently to the disappearance of a positively charged residue. Subsequently, we transferred an AAV vector coding for the human R77C protein in the muscle of Sgca-null mice and were able to pharmacologically rescue the R77C protein from endoplasmic reticulum-retention using proteasome or mannosidase I inhibitors. This suggests a therapeutic approach for LGMD2D patients carrying mutations that impair alpha-sarcoglycan trafficking. 相似文献
89.
Computed tomography (CT), ultrasonography (US) and low field magnetic resonance imaging (MRI) of muscles were performed in 13 patients of a large family with two clinically separate phenotypes of muscular dystrophy. Five patients had severe proximal muscle weakness and wasting like in limb-girdle muscular dystrophy. Imaging methods showed loss of muscle structure and replacement with adipose tissue especially in proximal muscles. Eight patients had distal myopathy of late onset with weakness and wasting of anterior tibial muscles. Imaging methods confirmed fatty degeneration of tibial muscles and, moreover, revealed unexpected large patchy lesions in several other clinically unaffected muscles. Our results indicate that some myopathies which are clinically localized, may actually have a more widespread patchy involvement as revealed by non-invasive imaging methods. In this family CT and MRI were more informative concerning lesions and distribution than US. 相似文献
90.