High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany
نویسندگان
چکیده
منابع مشابه
Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
متن کاملOverexpression of CUGBP1 in Skeletal Muscle from Adult Classic Myotonic Dystrophy Type 1 but Not from Myotonic Dystrophy Type 2
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are progressive multisystemic disorders caused by similar mutations at two different genetic loci. The common key feature of DM pathogenesis is nuclear accumulation of mutant RNA which causes aberrant alternative splicing of specific pre-mRNAs by altering the functions of two RNA binding proteins, MBNL1 and CUGBP1. However, DM1 and DM2 show disea...
متن کاملPersonality traits in patients with myotonic dystrophy type 2
Myotonic dystrophy type 2 (DM2) is a multisystem disorder that affects many organs and systems, including the brain. The objective is to analyze personality patterns in myotonic dystrophy type 2 (DM2) compared to DM1 control group. The study comprised 27 consecutive genetically confirmed DM2 patients and control group of 44 DM1 patients. Personality traits were assessed with the Millon Multiaxi...
متن کاملLaboratory abnormalities in patients with myotonic dystrophy type 2.
BACKGROUND Myotonic dystrophy type 2 (DM2) is a recently discovered adult muscular dystrophy. Similar to DM1, this disease causes progressive debilitating weakness, clinical myotonia, and early cataracts and is thought to cause widespread physiologic dysfunction of multiple organ systems. OBJECTIVE To analyze and compile the laboratory abnormalities of patients with DM2. DESIGN Baseline DM2...
متن کاملMusculoskeletal pain in patients with myotonic dystrophy type 2.
BACKGROUND Myotonic dystrophy type 2/proximal myotonic myopathy (DM2/PROMM) is an autosomal dominant multisystem disorder. Musculoskeletal pain is one of its frequent symptoms but also occurs in other chronic noninflammatory muscle disorders (OMD). OBJECTIVES To characterize the phenotype of DM2/PROMM-associated musculoskeletal pain and to test whether it shows features distinct from OMD. S...
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ژورنال
عنوان ژورنال: Journal of Neurology
سال: 2008
ISSN: 0340-5354,1432-1459
DOI: 10.1007/s00415-008-0010-z