[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].
about
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy.Modulating Ca²⁺ signals: a common theme for TMEM16, Ist2, and TMC.Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patientsA novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.Functions of volume-sensitive and calcium-activated chloride channels.Late-onset myopathy of the posterior calf muscles mimicking Miyoshi myopathy unrelated to dysferlin mutation: a case report.ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.Novel mutations in the Anoctamin 5 gene (ANO5) associated with limb-girdle muscular dystrophy 2L.Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy.Myopathy caused by anoctamin 5 mutations and necrotizing vasculitis
P2860
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P2860
[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings].
description
2011 nî lūn-bûn
@nan
2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
[Muscular dystrophy due to mut ...... d molecular genetic findings].
@ast
[Muscular dystrophy due to mut ...... d molecular genetic findings].
@en
type
label
[Muscular dystrophy due to mut ...... d molecular genetic findings].
@ast
[Muscular dystrophy due to mut ...... d molecular genetic findings].
@en
prefLabel
[Muscular dystrophy due to mut ...... d molecular genetic findings].
@ast
[Muscular dystrophy due to mut ...... d molecular genetic findings].
@en
P2093
P2860
P1433
P1476
[Muscular dystrophy due to mut ...... d molecular genetic findings].
@en
P2093
P2860
P2888
P304
P356
10.1007/S00115-011-3325-4
P407
P577
2011-12-01T00:00:00Z
P6179
1008917042