High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.
about
Toe-extension myotonia in myotonic dystrophy type 1.The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.ClC-1 chloride channels: state-of-the-art research and future challenges.ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro.New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics.Novel insights into the pathomechanisms of skeletal muscle channelopathies.Diagnosis of skeletal muscle channelopathies.Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.Myotonic Dystrophy Type 2: An Update on Clinical Aspects, Genetic and Pathomolecular Mechanism.Myotonic dystrophy type 2 and modifier genes: an update on clinical and pathomolecular aspects.Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach.Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutationsFocal seizures in a patient with myotonic disorder type 2 co-segregating with a chloride voltage-gated channel 1 gene mutation: a case report.Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2.Coexistence of DMPK gene expansion and CLCN1 missense mutation in the same patient.Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene.SCN4A as modifier gene in patients with myotonic dystrophy type 2
P2860
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P2860
High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany.
description
2008 nî lūn-bûn
@nan
2008 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
High frequency of co-segregati ...... ents from Finland and Germany.
@ast
High frequency of co-segregati ...... ents from Finland and Germany.
@en
type
label
High frequency of co-segregati ...... ents from Finland and Germany.
@ast
High frequency of co-segregati ...... ents from Finland and Germany.
@en
prefLabel
High frequency of co-segregati ...... ents from Finland and Germany.
@ast
High frequency of co-segregati ...... ents from Finland and Germany.
@en
P2093
P2860
P1433
P1476
High frequency of co-segregati ...... ents from Finland and Germany.
@en
P2093
T Suominen
P2860
P2888
P304
P356
10.1007/S00415-008-0010-Z
P577
2008-09-24T00:00:00Z
P5875
P6179
1000396779