COL VI myopathy;
collagen;
nerve basement membrane;
ultrastructure;
vessel basement membrane;
CONGENITAL MUSCULAR-DYSTROPHY;
SKIN;
MUSCLE;
D O I:
10.3109/01913123.2013.829151
中图分类号:
TH742 [显微镜];
学科分类号:
摘要:
The COL VI mutations are responsible for a spectrum of myopathies. The authors report cutaneous ultrastructural alterations in a patient with COL6A2 myopathy. The changes include variations in size of collagen fibrils, flower-like sections of collagen fibrils, as well as thickening of vessel and nerve basement membranes. Electron microscopy of a skin biopsy contributes to the diagnosis of COL VI myopathies.
机构:
Univ Utah, Dept Bioengn, Salt Lake City, UT 84112 USAUniv Utah, Dept Bioengn, Salt Lake City, UT 84112 USA
Reese, Shawn P.
Underwood, Clayton J.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Utah, Dept Bioengn, Salt Lake City, UT 84112 USAUniv Utah, Dept Bioengn, Salt Lake City, UT 84112 USA
Underwood, Clayton J.
Weiss, Jeffrey A.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Utah, Dept Bioengn, Salt Lake City, UT 84112 USA
Univ Utah, Dept Orthoped, Salt Lake City, UT 84112 USAUniv Utah, Dept Bioengn, Salt Lake City, UT 84112 USA
机构:
UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Great Ormond St Hosp Sick Children, London WC1N 1EH, EnglandUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Foley, A. Reghan
Quijano-Roy, Susana
论文数: 0引用数: 0
h-index: 0
机构:
Raymond Poincare Univ Hosp UVSQ, Garches Neuromuscular Ctr GNMH, F-92380 Garches, FranceUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Quijano-Roy, Susana
Collins, James
论文数: 0引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Neurol, Cincinnati, OH 45229 USAUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Collins, James
Straub, Volker
论文数: 0引用数: 0
h-index: 0
机构:
Univ Newcastle, Int Ctr Life, Inst Med Genet, Newcastle NE1 3BZ, EnglandUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Straub, Volker
McCallum, Michelle
论文数: 0引用数: 0
h-index: 0
机构:
Univ Newcastle, Int Ctr Life, Inst Med Genet, Newcastle NE1 3BZ, EnglandUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
机构:
Univ Melbourne, Murdoch Childrens Res Inst, Royal Childrens Hosp, Dept Neurol, Parkville, Vic 3052, AustraliaUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Ryan, Monique M.
论文数: 引用数:
h-index:
机构:
Richard, Pascale
Allamand, Valerie
论文数: 0引用数: 0
h-index: 0
机构:
Univ Paris 06, IFR14, Inst Myol, F-75013 Paris, France
CNRS, UMR7215, F-75013 Paris, France
Univ Paris 06, INSERM, U974, F-75013 Paris, FranceUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Allamand, Valerie
Hicks, Debbie
论文数: 0引用数: 0
h-index: 0
机构:
Univ Newcastle, Int Ctr Life, Inst Med Genet, Newcastle NE1 3BZ, EnglandUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Hicks, Debbie
Lamande, Shireen
论文数: 0引用数: 0
h-index: 0
机构:
Univ Melbourne, Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, AustraliaUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Lamande, Shireen
Hu, Ying
论文数: 0引用数: 0
h-index: 0
机构:
NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bethesda, MD 20892 USAUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Hu, Ying
论文数: 引用数:
h-index:
机构:
Gualandi, Francesca
Auh, Sungyoung
论文数: 0引用数: 0
h-index: 0
机构:
NINDS, Biostat Unit, NIH, Bethesda, MD 20892 USAUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Auh, Sungyoung
Muntoni, Francesco
论文数: 0引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Great Ormond St Hosp Sick Children, London WC1N 1EH, EnglandUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Muntoni, Francesco
Boennemann, Carsten G.
论文数: 0引用数: 0
h-index: 0
机构:
NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bethesda, MD 20892 USAUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
机构:
Chung Ang Univ, Dept Pathol, Seoul 155756, South KoreaChung Ang Univ, Dept Pathol, Seoul 155756, South Korea
Shin, Youn-Ho
Seo, Young-Kwon
论文数: 0引用数: 0
h-index: 0
机构:
Dongguk Univ, Dongguk Univ Res Inst Biotechnol, Seoul 100715, South KoreaChung Ang Univ, Dept Pathol, Seoul 155756, South Korea
Seo, Young-Kwon
Yoon, Hee-Hoon
论文数: 0引用数: 0
h-index: 0
机构:
Dongguk Univ, Dongguk Univ Res Inst Biotechnol, Seoul 100715, South KoreaChung Ang Univ, Dept Pathol, Seoul 155756, South Korea
Yoon, Hee-Hoon
Yoo, Bo-Young
论文数: 0引用数: 0
h-index: 0
机构:
Dongguk Univ, Seoul 100715, South KoreaChung Ang Univ, Dept Pathol, Seoul 155756, South Korea
Yoo, Bo-Young
Song, Kye-Yong
论文数: 0引用数: 0
h-index: 0
机构:
Chung Ang Univ, Dept Pathol, Seoul 155756, South KoreaChung Ang Univ, Dept Pathol, Seoul 155756, South Korea
Song, Kye-Yong
Park, Jung-Keug
论文数: 0引用数: 0
h-index: 0
机构:
Dongguk Univ, Dongguk Univ Res Inst Biotechnol, Seoul 100715, South Korea
Dongguk Univ, Seoul 100715, South Korea
Dongguk Univ, Seoul 100715, South KoreaChung Ang Univ, Dept Pathol, Seoul 155756, South Korea
机构:
UNESP, Dept Dermatol & Radioterapia, Fac Med Botucatu, BR-18618000 Botucatu, SP, BrazilUNESP, Dept Dermatol & Radioterapia, Fac Med Botucatu, BR-18618000 Botucatu, SP, Brazil
Miot, Helio Amante
Brianezi, Gabrielli
论文数: 0引用数: 0
h-index: 0
机构:
UNESP, Dept Patol, Fac Med Botucatu, BR-18618000 Botucatu, SP, BrazilUNESP, Dept Dermatol & Radioterapia, Fac Med Botucatu, BR-18618000 Botucatu, SP, Brazil
机构:
Univ Utah, Dept Bioengn, Salt Lake City, UT 84112 USAUniv Utah, Dept Bioengn, Salt Lake City, UT 84112 USA
Reese, Shawn P.
Underwood, Clayton J.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Utah, Dept Bioengn, Salt Lake City, UT 84112 USAUniv Utah, Dept Bioengn, Salt Lake City, UT 84112 USA
Underwood, Clayton J.
Weiss, Jeffrey A.
论文数: 0引用数: 0
h-index: 0
机构:
Univ Utah, Dept Bioengn, Salt Lake City, UT 84112 USA
Univ Utah, Dept Orthoped, Salt Lake City, UT 84112 USAUniv Utah, Dept Bioengn, Salt Lake City, UT 84112 USA
机构:
UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Great Ormond St Hosp Sick Children, London WC1N 1EH, EnglandUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Foley, A. Reghan
Quijano-Roy, Susana
论文数: 0引用数: 0
h-index: 0
机构:
Raymond Poincare Univ Hosp UVSQ, Garches Neuromuscular Ctr GNMH, F-92380 Garches, FranceUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Quijano-Roy, Susana
Collins, James
论文数: 0引用数: 0
h-index: 0
机构:
Cincinnati Childrens Hosp Med Ctr, Div Neurol, Cincinnati, OH 45229 USAUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Collins, James
Straub, Volker
论文数: 0引用数: 0
h-index: 0
机构:
Univ Newcastle, Int Ctr Life, Inst Med Genet, Newcastle NE1 3BZ, EnglandUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Straub, Volker
McCallum, Michelle
论文数: 0引用数: 0
h-index: 0
机构:
Univ Newcastle, Int Ctr Life, Inst Med Genet, Newcastle NE1 3BZ, EnglandUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
机构:
Univ Melbourne, Murdoch Childrens Res Inst, Royal Childrens Hosp, Dept Neurol, Parkville, Vic 3052, AustraliaUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Ryan, Monique M.
论文数: 引用数:
h-index:
机构:
Richard, Pascale
Allamand, Valerie
论文数: 0引用数: 0
h-index: 0
机构:
Univ Paris 06, IFR14, Inst Myol, F-75013 Paris, France
CNRS, UMR7215, F-75013 Paris, France
Univ Paris 06, INSERM, U974, F-75013 Paris, FranceUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Allamand, Valerie
Hicks, Debbie
论文数: 0引用数: 0
h-index: 0
机构:
Univ Newcastle, Int Ctr Life, Inst Med Genet, Newcastle NE1 3BZ, EnglandUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Hicks, Debbie
Lamande, Shireen
论文数: 0引用数: 0
h-index: 0
机构:
Univ Melbourne, Royal Childrens Hosp, Murdoch Childrens Res Inst, Parkville, Vic 3052, AustraliaUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Lamande, Shireen
Hu, Ying
论文数: 0引用数: 0
h-index: 0
机构:
NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bethesda, MD 20892 USAUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Hu, Ying
论文数: 引用数:
h-index:
机构:
Gualandi, Francesca
Auh, Sungyoung
论文数: 0引用数: 0
h-index: 0
机构:
NINDS, Biostat Unit, NIH, Bethesda, MD 20892 USAUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Auh, Sungyoung
Muntoni, Francesco
论文数: 0引用数: 0
h-index: 0
机构:
UCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Great Ormond St Hosp Sick Children, London WC1N 1EH, EnglandUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
Muntoni, Francesco
Boennemann, Carsten G.
论文数: 0引用数: 0
h-index: 0
机构:
NINDS, Neuromuscular & Neurogenet Disorders Childhood Se, NIH, Bethesda, MD 20892 USAUCL, Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England
机构:
Chung Ang Univ, Dept Pathol, Seoul 155756, South KoreaChung Ang Univ, Dept Pathol, Seoul 155756, South Korea
Shin, Youn-Ho
Seo, Young-Kwon
论文数: 0引用数: 0
h-index: 0
机构:
Dongguk Univ, Dongguk Univ Res Inst Biotechnol, Seoul 100715, South KoreaChung Ang Univ, Dept Pathol, Seoul 155756, South Korea
Seo, Young-Kwon
Yoon, Hee-Hoon
论文数: 0引用数: 0
h-index: 0
机构:
Dongguk Univ, Dongguk Univ Res Inst Biotechnol, Seoul 100715, South KoreaChung Ang Univ, Dept Pathol, Seoul 155756, South Korea
Yoon, Hee-Hoon
Yoo, Bo-Young
论文数: 0引用数: 0
h-index: 0
机构:
Dongguk Univ, Seoul 100715, South KoreaChung Ang Univ, Dept Pathol, Seoul 155756, South Korea
Yoo, Bo-Young
Song, Kye-Yong
论文数: 0引用数: 0
h-index: 0
机构:
Chung Ang Univ, Dept Pathol, Seoul 155756, South KoreaChung Ang Univ, Dept Pathol, Seoul 155756, South Korea
Song, Kye-Yong
Park, Jung-Keug
论文数: 0引用数: 0
h-index: 0
机构:
Dongguk Univ, Dongguk Univ Res Inst Biotechnol, Seoul 100715, South Korea
Dongguk Univ, Seoul 100715, South Korea
Dongguk Univ, Seoul 100715, South KoreaChung Ang Univ, Dept Pathol, Seoul 155756, South Korea
机构:
UNESP, Dept Dermatol & Radioterapia, Fac Med Botucatu, BR-18618000 Botucatu, SP, BrazilUNESP, Dept Dermatol & Radioterapia, Fac Med Botucatu, BR-18618000 Botucatu, SP, Brazil
Miot, Helio Amante
Brianezi, Gabrielli
论文数: 0引用数: 0
h-index: 0
机构:
UNESP, Dept Patol, Fac Med Botucatu, BR-18618000 Botucatu, SP, BrazilUNESP, Dept Dermatol & Radioterapia, Fac Med Botucatu, BR-18618000 Botucatu, SP, Brazil