A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs
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چکیده
منابع مشابه
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy
BACKGROUND Hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase are variants of a recessive disorder characterised by childhood-onset early fatigue, dyspnoea and palpitations on trivial exercise. The disease is non-progressive, but life-threatening episodes of widespread weakness, metabolic acidosis and rhabdomyolysis may occur. So far, ...
متن کاملA proven de novo germline mutation in HNPCC.
Hereditary non-polyposis colon cancer (HNPCC) is a heterogeneous group of tumour predisposition syndromes caused by germline mutations in at least four different mismatch repair genes. HNPCC patients are prone to the development of carcinomas of the intestinal tract and other specific sites. Identification of presumptive HNPCC patients is primarily based on a positive family history of colorect...
متن کامل8-oxoguanine causes spontaneous de novo germline mutations in mice
Spontaneous germline mutations generate genetic diversity in populations of sexually reproductive organisms, and are thus regarded as a driving force of evolution. However, the cause and mechanism remain unclear. 8-oxoguanine (8-oxoG) is a candidate molecule that causes germline mutations, because it makes DNA more prone to mutation and is constantly generated by reactive oxygen species in vivo...
متن کاملRecurrent germline mutation in MSH2 arises frequently de novo.
INTRODUCTION An intronic germline mutation in the MSH2 gene, A-->T at nt942+3, interferes with the exon 5 donor splicing mechanism leading to a mRNA lacking exon 5. This mutation causes typical hereditary non-polyposis colorectal cancer (HNPCC) and has been observed in numerous probands and families world wide. Recurrent mutations either arise repeatedly de novo or emanate from ancestral foundi...
متن کاملAssociation of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family.
IMPORTANCE New genomic strategies can now be applied to identify a diagnosis in patients and families with previously undiagnosed rare genetic conditions. The large family evaluated in the present study was described in 1966 and now expands the phenotype of a known neuromuscular gene. OBJECTIVE To determine the genetic cause of a slowly progressive, autosomal dominant, scapuloperoneal neuromu...
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ژورنال
عنوان ژورنال: BMC Genetics
سال: 2012
ISSN: 1471-2156
DOI: 10.1186/1471-2156-13-99