X-linked myotubular myopathy: Report of a case with novel mutation

T Hortobagyi; H Szabo; K S Kovacs; I Bodi; E Bereg; M Katona; V Biancalana; S Turi; L Sztriha

doi:10.1177/0883073807301930

X-linked myotubular myopathy: Report of a case with novel mutation

T Hortobagyi, H Szabo, K S Kovacs, I Bodi, E Bereg, M Katona, V Biancalana, S Turi, L Sztriha

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Abstract

Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe V linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and further specified by genetic analysis,

Original language	English
Pages (from-to)	447 - 451
Number of pages	5
Journal	Journal of Child Neurology
Volume	22
Issue number	4
DOIs	https://doi.org/10.1177/0883073807301930
Publication status	Published - Apr 2007

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title = "X-linked myotubular myopathy: Report of a case with novel mutation",

abstract = "Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe V linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and further specified by genetic analysis,",

author = "T Hortobagyi and H Szabo and Kovacs, {K S} and I Bodi and E Bereg and M Katona and V Biancalana and S Turi and L Sztriha",

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AU - Hortobagyi, T

AU - Szabo, H

AU - Kovacs, K S

AU - Bodi, I

AU - Bereg, E

AU - Katona, M

AU - Biancalana, V

AU - Turi, S

AU - Sztriha, L

PY - 2007/4

Y1 - 2007/4

N2 - Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe V linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and further specified by genetic analysis,

AB - Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe V linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and further specified by genetic analysis,

U2 - 10.1177/0883073807301930

DO - 10.1177/0883073807301930

M3 - Article

VL - 22

SP - 447

EP - 451

JO - Journal of Child Neurology

JF - Journal of Child Neurology

IS - 4

ER -

X-linked myotubular myopathy: Report of a case with novel mutation

Abstract

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