POMT2 mutation in a patient with 'MEB-like' phenotype

Eugenio Maria Mercuri; A. D'Amico; A. Tessa; A. Berardinelli; Marika Pane; S. Messina; J. Van Reeuwijk; E. Bertini; Enrico Silvio Bertini; F. Muntoni; F. M. Santorelli

doi:10.1016/j.nmd.2006.03.016

POMT2 mutation in a patient with 'MEB-like' phenotype

Eugenio Maria Mercuri, A. D'Amico, A. Tessa, A. Berardinelli, Marika Pane, S. Messina, J. Van Reeuwijk, E. Bertini, Enrico Silvio Bertini, F. Muntoni, F. M. Santorelli

Risultato della ricerca: Contributo in rivista › Articolo in rivista

Abstract

Mutations in POMT2 have so far only been reported in patients with Walker-Warburg phenotype. We report heterozygous POMT2 mutations in an a girl with a milder phenotype characterized by mental retardation, microcephaly, hypertrophy of the quadriceps and calf muscles, and structural brain changes mostly affecting the posterior fossa. Our findings suggest that, as previously reported for POMT1 and FKRP, mutations in the POMT2 can also be associated with clinical heterogeneity. © 2006 Elsevier B.V. All rights reserved.

Lingua originale	English
pagine (da-a)	446-448
Numero di pagine	3
Rivista	Neuromuscular Disorders
Volume	16
DOI	https://doi.org/10.1016/j.nmd.2006.03.016
Stato di pubblicazione	Pubblicato - 2006

Keywords

Brain
POMT2
Congenital muscular dystrophy

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10.1016/j.nmd.2006.03.016

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title = "POMT2 mutation in a patient with 'MEB-like' phenotype",

abstract = "Mutations in POMT2 have so far only been reported in patients with Walker-Warburg phenotype. We report heterozygous POMT2 mutations in an a girl with a milder phenotype characterized by mental retardation, microcephaly, hypertrophy of the quadriceps and calf muscles, and structural brain changes mostly affecting the posterior fossa. Our findings suggest that, as previously reported for POMT1 and FKRP, mutations in the POMT2 can also be associated with clinical heterogeneity. {\textcopyright} 2006 Elsevier B.V. All rights reserved.",

keywords = "Brain, POMT2, Congenital muscular dystrophy, Brain, POMT2, Congenital muscular dystrophy",

author = "Mercuri, {Eugenio Maria} and A. D'Amico and A. Tessa and A. Berardinelli and Marika Pane and S. Messina and {Van Reeuwijk}, J. and E. Bertini and Bertini, {Enrico Silvio} and F. Muntoni and Santorelli, {F. M.}",

year = "2006",

doi = "10.1016/j.nmd.2006.03.016",

language = "English",

volume = "16",

pages = "446--448",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

publisher = "Elsevier Ltd",

}

TY - JOUR

T1 - POMT2 mutation in a patient with 'MEB-like' phenotype

AU - Mercuri, Eugenio Maria

AU - D'Amico, A.

AU - Tessa, A.

AU - Berardinelli, A.

AU - Pane, Marika

AU - Messina, S.

AU - Van Reeuwijk, J.

AU - Bertini, E.

AU - Bertini, Enrico Silvio

AU - Muntoni, F.

AU - Santorelli, F. M.

PY - 2006

Y1 - 2006

N2 - Mutations in POMT2 have so far only been reported in patients with Walker-Warburg phenotype. We report heterozygous POMT2 mutations in an a girl with a milder phenotype characterized by mental retardation, microcephaly, hypertrophy of the quadriceps and calf muscles, and structural brain changes mostly affecting the posterior fossa. Our findings suggest that, as previously reported for POMT1 and FKRP, mutations in the POMT2 can also be associated with clinical heterogeneity. © 2006 Elsevier B.V. All rights reserved.

AB - Mutations in POMT2 have so far only been reported in patients with Walker-Warburg phenotype. We report heterozygous POMT2 mutations in an a girl with a milder phenotype characterized by mental retardation, microcephaly, hypertrophy of the quadriceps and calf muscles, and structural brain changes mostly affecting the posterior fossa. Our findings suggest that, as previously reported for POMT1 and FKRP, mutations in the POMT2 can also be associated with clinical heterogeneity. © 2006 Elsevier B.V. All rights reserved.

KW - Brain

KW - POMT2

KW - Congenital muscular dystrophy

KW - Brain

KW - POMT2

KW - Congenital muscular dystrophy

UR - http://hdl.handle.net/10807/260320

U2 - 10.1016/j.nmd.2006.03.016

DO - 10.1016/j.nmd.2006.03.016

M3 - Article

SN - 0960-8966

VL - 16

SP - 446

EP - 448

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

ER -

POMT2 mutation in a patient with 'MEB-like' phenotype

Abstract

Keywords

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