X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization

Carmen Paradas; Celedonio Márquez; Eduard Gallardo; Noemí De Luna; Isidoro Chinchón; Dominique Recan; María Dolores Jiménez; Isabel Illa

doi:10.1002/mus.20311

X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization

Carmen Paradas, Celedonio Márquez, Eduard Gallardo, Noemí De Luna, Isidoro Chinchón, Dominique Recan, María Dolores Jiménez, Isabel Illa

Departament de Medicina

Producció científica: Contribució a revista › Article › Recerca › Avaluat per experts

7 Cites (Scopus)

Resum

We report a striking abundance of rimmed vacuoles in two brothers with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysis showing a new 2-bp deletion in exon 6 of the STA gene at the Xq28 region. Immunohistochemical analysis of the vacuoles revealed expression of dystrophin but not of merosin in the sarcolemma of rimmed vacuoles and absence of amyloid and membrane attack complex (MAC) deposition either in vacuoles or muscle fibers. The presence of rimmed vacuoles can be a histopathological finding in X-EDMD, and the diagnosis should not be excluded in clinically well-defined EDMD patients because of this finding. © 2005 Wiley Periodicals, Inc.

Idioma original	Anglès
Pàgines (de-a)	61-65
Revista	Muscle and Nerve
Volum	32
DOIs	https://doi.org/10.1002/mus.20311
Estat de la publicació	Publicada - 1 de jul. 2005

Accés al document

10.1002/mus.20311

Com citar-ho

@article{35f155bc2a5b462ca035835c55a572d9,

title = "X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization",

abstract = "We report a striking abundance of rimmed vacuoles in two brothers with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysis showing a new 2-bp deletion in exon 6 of the STA gene at the Xq28 region. Immunohistochemical analysis of the vacuoles revealed expression of dystrophin but not of merosin in the sarcolemma of rimmed vacuoles and absence of amyloid and membrane attack complex (MAC) deposition either in vacuoles or muscle fibers. The presence of rimmed vacuoles can be a histopathological finding in X-EDMD, and the diagnosis should not be excluded in clinically well-defined EDMD patients because of this finding. {\textcopyright} 2005 Wiley Periodicals, Inc.",

keywords = "Emerin, Inclusion-body myositis, Membrane attack complex, Vacuoles, X-linked Emery-Dreifuss muscular dystrophy, X-linked myopathy",

author = "Carmen Paradas and Celedonio M{\'a}rquez and Eduard Gallardo and {De Luna}, Noem{\'i} and Isidoro Chinch{\'o}n and Dominique Recan and Jim{\'e}nez, {Mar{\'i}a Dolores} and Isabel Illa",

year = "2005",

month = jul,

day = "1",

doi = "10.1002/mus.20311",

language = "English",

volume = "32",

pages = "61--65",

journal = "Muscle and Nerve",

issn = "0148-639X",

publisher = "John Wiley and Sons Inc.",

}

TY - JOUR

T1 - X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization

AU - Paradas, Carmen

AU - Márquez, Celedonio

AU - Gallardo, Eduard

AU - De Luna, Noemí

AU - Chinchón, Isidoro

AU - Recan, Dominique

AU - Jiménez, María Dolores

AU - Illa, Isabel

PY - 2005/7/1

Y1 - 2005/7/1

N2 - We report a striking abundance of rimmed vacuoles in two brothers with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysis showing a new 2-bp deletion in exon 6 of the STA gene at the Xq28 region. Immunohistochemical analysis of the vacuoles revealed expression of dystrophin but not of merosin in the sarcolemma of rimmed vacuoles and absence of amyloid and membrane attack complex (MAC) deposition either in vacuoles or muscle fibers. The presence of rimmed vacuoles can be a histopathological finding in X-EDMD, and the diagnosis should not be excluded in clinically well-defined EDMD patients because of this finding. © 2005 Wiley Periodicals, Inc.

AB - We report a striking abundance of rimmed vacuoles in two brothers with X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) confirmed by the absence of emerin at the muscular nuclear envelope and by genetic analysis showing a new 2-bp deletion in exon 6 of the STA gene at the Xq28 region. Immunohistochemical analysis of the vacuoles revealed expression of dystrophin but not of merosin in the sarcolemma of rimmed vacuoles and absence of amyloid and membrane attack complex (MAC) deposition either in vacuoles or muscle fibers. The presence of rimmed vacuoles can be a histopathological finding in X-EDMD, and the diagnosis should not be excluded in clinically well-defined EDMD patients because of this finding. © 2005 Wiley Periodicals, Inc.

KW - Emerin

KW - Inclusion-body myositis

KW - Membrane attack complex

KW - Vacuoles

KW - X-linked Emery-Dreifuss muscular dystrophy

KW - X-linked myopathy

U2 - 10.1002/mus.20311

DO - 10.1002/mus.20311

M3 - Article

SN - 0148-639X

VL - 32

SP - 61

EP - 65

JO - Muscle and Nerve

JF - Muscle and Nerve

ER -

X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization

Resum

Accés al document

Fingerprint

Com citar-ho