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Myopathy in a woman and her daughter associated with a novel splice site MTM1 mutation.

Artikel i vetenskaplig tidskrift
Författare Carola Hedberg
Christopher Lindberg
Gyöngyvér Máthé
Ali-Reza Moslemi
Anders Oldfors
Publicerad i Neuromuscular disorders : NMD
Volym 22
Nummer/häfte 3
Sidor 244-51
ISSN 1873-2364
Publiceringsår 2012
Publicerad vid Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering
Institutionen för biomedicin, avdelningen för patologi
Sidor 244-51
Språk en
Länkar dx.doi.org/10.1016/j.nmd.2011.10.01...
Ämnesord Aged, Exons, genetics, Family Health, Female, Genetic Association Studies, Humans, Microscopy, Electron, Transmission, Middle Aged, Mothers, Muscle, Skeletal, pathology, ultrastructure, Muscular Diseases, genetics, pathology, Mutation, genetics, Nuclear Family, Protein Tyrosine Phosphatases, Non-Receptor, genetics, metabolism, RNA Splicing, genetics
Ämneskategorier Klinisk medicin

Sammanfattning

We have investigated a woman and her daughter with an early onset, slowly progressive myopathy. Muscle biopsy showed in both cases severe atrophy with marked fatty replacement. Frequent fibers with internalized nuclei were present but no typical features of centronuclear myopathy. There were also many fibers with deep invaginations of the plasma membrane. The presence of necklace fibers provided clue to correct genetic diagnosis. Both patients had a novel heterozygous splice site mutation in the myotubularin gene, MTM1 (c.867+1G>T). Analysis of MTM1 cDNA revealed that the mutation resulted in aberrant splicing with variable exon skipping. The expression of normal transcripts was markedly reduced and there was reduced expression of myotubularin protein. Although the expression of the allele without the mutation was reduced we did not obtain evidence of skewed X-chromosome inactivation. Other factors than skewed X-inactivation may cause allele inactivation and manifestation of severe myopathy in heterozygous carriers of pathogenic MTM1 mutations.

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