Clinical utility gene card for: Centronuclear and myotubular myopathies.
about
X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 geneTriadopathies: an emerging class of skeletal muscle diseases.Muscle pathology, limb strength, walking gait, respiratory function and neurological impairment establish disease progression in the p.N155K canine model of X-linked myotubular myopathy.Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database.Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.Extensive morphological and immunohistochemical characterization in myotubular myopathy.Gene therapy in monogenic congenital myopathies.Long-term effects of systemic gene therapy in a canine model of myotubular myopathy.Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.Centronuclear myopathies under attack: A plethora of therapeutic targetsECEL1mutation causes fetal arthrogryposis multiplex congenita
P2860
Q35060580-11D8095F-B2B7-43FF-9122-17D40D09C96EQ35340211-ED53551D-4FD6-4EFB-A123-0C0E09E93220Q36241876-73AEFCF1-9AAA-43B2-A3F9-705AB6EF9B2CQ36809651-8478DD42-CB03-4BF5-858B-24F43B81CA78Q37227067-3B24F450-40BC-4DC4-BE2D-FD00D2C45F26Q37407306-A32F7F91-3151-4BE6-9980-5FD0DF83FC4DQ38603658-3D475804-4202-46AD-A944-113C54F99072Q40261444-2E369533-D21A-4CEE-9B4E-B5F563C78825Q41750961-2BE36046-39D2-43D3-8370-4FC8FD0C530DQ45869519-F7EB5B87-9631-492E-8712-3B6498B100F7Q47577667-A55DA789-4797-4D38-BC61-CD228343C888Q58713722-9282D41A-3672-401F-8666-066570812514Q58815641-609B5F6F-4E29-47CA-85F7-17C623C105BF
P2860
Clinical utility gene card for: Centronuclear and myotubular myopathies.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Clinical utility gene card for: Centronuclear and myotubular myopathies.
@ast
Clinical utility gene card for: Centronuclear and myotubular myopathies.
@en
type
label
Clinical utility gene card for: Centronuclear and myotubular myopathies.
@ast
Clinical utility gene card for: Centronuclear and myotubular myopathies.
@en
prefLabel
Clinical utility gene card for: Centronuclear and myotubular myopathies.
@ast
Clinical utility gene card for: Centronuclear and myotubular myopathies.
@en
P2093
P2860
P50
P356
P1476
Clinical utility gene card for: Centronuclear and myotubular myopathies.
@en
P2093
Jocelyn Laporte
Norma B Romero
Valérie Biancalana
Wolfram Kress
P2860
P2888
P356
10.1038/EJHG.2012.91
P577
2012-05-23T00:00:00Z