نتایج جستجو برای: myotonic dystrophy

تعداد نتایج: 22886  

Journal: :European Journal of Human Genetics 2003

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1981

Journal: :Canadian Medical Association Journal 2016

Journal: :Archives of disease in childhood 1975
P S Harper

A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirmed. Characteristic features included neonatal hypotonia, motor and mental retardation, and facial diplegia. A high incidence of t...

Journal: :Journal of medical genetics 1997
D J Dow D C Rubinsztein J R Yates D E Barton M A Ferguson-Smith

We report on a myotonic dystrophy (DM) family exhibiting instability of normal sized (CTG)n alleles in the DM kinase gene on the non-DM chromosome. At least two mutational events involving normal DM alleles must have occurred in this family; one was characterised as a 34-35 (CTG)n repeat mutation. These findings represent a dissociation between (CTG)n repeat instability and myotonic dystrophy. ...

Journal: :British Journal of Anaesthesia 1994

Journal: :Neuromuscular Disorders 2020

Journal: :Nihon Naika Gakkai Zasshi 2003

Journal: :Rinsho Shinkeigaku 2012

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